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1.  Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion 
BMC Pediatrics  2014;14:220.
Background
Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinary system can occur, corroborating the intra- and interfamilial phenotypic variability. The majority of patients display monosomy of the Xp22.2 region, where the holocytochrome c-type synthase (HCCS) gene is located.
Case presentation
We describe a 15-year-old-female affected by MLS syndrome and autism spectrum disorder (ASD). ASD has not previously been reported as a component of MLS. Our patient shows a large deletion of 12.9 Mb, involving Xp22.32-p22.2, which encompasses both the HCCS gene and autism X-linked genes.
Conclusion
Thus, patients with a large deletion at Xp22 might display MLS with ASD, due to the deletion of contiguous genes, although the highly variable phenotype of these patients could be influenced by several genetic mechanisms, including different tissue-specific X-inactivation and somatic mosaicism.
doi:10.1186/1471-2431-14-220
PMCID: PMC4236679  PMID: 25182979
MLS syndrome; Autism spectrum disorder; Xp deletion; X-inactivation; Phenotypic variability
2.  Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome 
BMC Pediatrics  2014;14:201.
Background
Gitelman syndrome is an autosomal recessive tubulopathy characterized by hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria. The majority of patients do not present with symptoms until late childhood or adulthood, and the symptoms are generally mild. We report here the first case of Gitelman syndrome presenting with the biological features of Fanconi syndrome and an early polyuria since the neonatal period. We discuss in this article the atypical electrolytes losses found in our patient, as well as the possible mechanisms of severe polyuria.
Case presentation
A 6-year-old Caucasian girl was admitted via the Emergency department for vomiting, and initial laboratory investigations found hyponatremia, hypokalemia, metabolic acidosis with normal anion gap, hypophosphatemia, and hypouricemia. Urinalysis revealed Na, K, Ph and uric acid losses. Thus, the initial biological profile was in favor of a proximal tubular defect. However, etiological investigations were inconclusive and the patient was discharged with potassium chloride and phosphorus supplementation. Three weeks later, further laboratory analysis indicated persistent hypokalemia, a metabolic alkalosis, hypomagnesemia, and hypocalciuria. We therefore sequenced the SLC12A3 gene and found a compound heterozygosity for 2 known missense mutations.
Conclusions
Gitelman syndrome can have varying and sometimes atypical presentations, and should be suspected in case of hypokalemic tubular disorders that do not belong to any obvious syndromic entity. In this case, the proximal tubular dysfunction could be secondary to the severe hypokalemia. This report emphasizes the need for clinicians to repeat laboratory tests in undiagnosed tubular disorders, especially not during decompensation episodes.
doi:10.1186/1471-2431-14-201
PMCID: PMC4131229  PMID: 25112827
Polyuria; Polydipsia; Hypokalemia; Fanconi syndrome; Gitelman syndrome
3.  Severe and isolated headache associated with hypertension as unique clinical presentation of posterior reversible encephalopathy syndrome 
BMC Pediatrics  2014;14:190.
Background
Posterior reversible encephalopathy syndrome is a potentially reversible clinicoradiologic syndrome characterized by headache, mental confusion, visual disturbances and seizures associated with posterior cerebral lesions on radiological imaging. Prompt treatment of this condition is mandatory to avoid severe irreversible complications.
Case presentation
We report a 9-year-old boy with arterial hypertension and headache as unique clinical presentation of posterior reversible encephalopathy syndrome.
Conclusions
Severe and isolated headache associated with arterial hypertension can be the unique clinical presentation of posterior reversible encephalopathy syndrome. This syndrome must be considered even in absence of all typical symptoms to prevent the progression of a potentially life threatening condition.
doi:10.1186/1471-2431-14-190
PMCID: PMC4113662  PMID: 25062701
Posterior reversible encephalopathy syndrome; Arterial hypertension; Headache
4.  Permanent neonatal diabetes mellitus in China 
BMC Pediatrics  2014;14:188.
Background
Permanent neonatal diabetes mellitus (PNDM) is a rare disease, which is defined as the onset of diabetes before the age of 6 months with persistence through life. Infants with KCNJ11 or ABCC8 genetic mutations may respond to oral sulfonylurea therapy. Currently, there are limited studies about the genetic analysis and long-term follow-up of PNDM.
Case presentation
We report four cases of PNDM. None of the infants or their parents had INS, KCNJ11, or ABCC8 genetic mutations. One infant underwent continuous subcutaneous insulin infusion (CSII) and the other infants underwent multiple injections of insulin (MII). In these infants, PNDM persisted from 35 months to 60 months of follow-up. Three infants maintained fairly stable blood sugar levels, and one infant had poor sugar control.
Conclusions
We suggest that all of the infants with PNDM should undergo genetic evaluation. For infants without KCNJ11 and ABCC8 genetic mutations, oral sulfonylurea should not be considered as treatment. CSII is a useful method for overcoming the difficulties of diabetes, and it may also improve the quality of life of both infants and their parents.
doi:10.1186/1471-2431-14-188
PMCID: PMC4118223  PMID: 25052923
Permanent neonatal diabetes mellitus; Genetic analysis; Therapy
5.  Spontaneous pneumothorax as indicator for Birt-Hogg-Dubé syndrome in paediatric patients 
BMC Pediatrics  2014;14:171.
Background
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominantly inherited disorder caused by germline mutations in the folliculin (FLCN) gene. Clinical manifestations of BHD include skin fibrofolliculomas, renal cell cancer, lung cysts and (recurrent) spontaneous pneumothorax (SP). All clinical manifestations usually present in adults > 20 years of age.
Case presentations
Two non-related patients with (recurrent) pneumothorax starting at age 14 accompanied by multiple basal lung cysts on thoracic CT underwent FLCN germline mutation analysis. A pathogenic FLCN mutation was found in both patients confirming suspected BHD. The family history was negative for spontaneous pneumothorax in both families.
Conclusion
Although childhood occurrence of SP in BHD is rare, these two cases illustrate that BHD should be considered as cause of SP in children.
doi:10.1186/1471-2431-14-171
PMCID: PMC4088368  PMID: 24994497
Birt-Hogg-Dubé syndrome; BHD; Folliculin; FLCN; Spontaneous pneumothorax; Renal cell cancer; Fibrofolliculomas
6.  Chronic granulomatous disease mimicking early-onset Crohn’s disease with cutaneous manifestations 
BMC Pediatrics  2014;14:156.
Background
Chronic granulomatous disease is a rare inherited disorder of the innate immune system. In patients with a clinical history of recurrent or persistent infections, especially infections caused by uncommon species, chronic granulomatous disease should be considered.
Case presentation
We report the case of a 5-year-old boy with a presumptive diagnosis of Crohn’s disease with extraintestinal manifestations. Chronic granulomatous disease was suspected in this case after Serratia marcescens was isolated from a skin ulcer culture. Granulomas were confirmed on histology and chronic granulomatous disease was diagnosed.
Conclusion
This case emphasizes the importance of high clinical suspicion of an alternative diagnosis of immune deficiency in patients with presumed inflammatory bowel disease and opportunistic infections, especially when disease occurs in early life.
doi:10.1186/1471-2431-14-156
PMCID: PMC4097086  PMID: 24947584
Chronic granulomatous disease; Crohn’s disease; Serratia marcescens; Celiac disease; Skin infection; Nitroblue tetrazolium test; Pigment laden histiocytes
7.  Multiple cerebral sinus thromboses complicating meningococcal meningitis: a pediatric case report 
BMC Pediatrics  2014;14:147.
Background
Cerebral venous sinus thrombosis (CVT) is a rare and potentially life-threatening condition in the pediatric population. The clinical presentation is frequently nonspecific; thus diagnosis is often delayed or missed.
Case presentation
A previously healthy 8 month-old boy was diagnosed with meningococcal meningitis. At hospital admission, an urgent non contrast-enhanced computed tomography (CT) of the head and neck was performed with normal results. Ceftriaxone was promptly started and the clinical condition of the patient improved. However, on the 7th day of hospitalization, the child suddenly manifested irritability and lethargy. An urgent contrast-enhanced CT of the head and neck was immediately performed, revealing thrombosis of the superior sagittal, transverse and rectus sinuses. A thrombophilic evaluation was performed, revealing hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) variants (C677T and A1298C).
Conclusions
The causes of CVT may be categorized into three main groups: hypercoagulable states, conditions causing blood flow disturbances, and all causes of inflammation or infection. In this case report, we observed more than one risk factor that predisposed the patient to CVT. Consequently, even if a causative factor is detected, a thrombophilic blood evaluation should be performed. In fact, in case of a prothrombotic condition, the patient’s family should be advised that prompt administration of anticoagulant is necessary in the event of situations that could lead to thrombosis. Finally, CVT may be considered a possible complication of infection even when recent imaging results are normal. A prompt CVT diagnosis is required to obtain a good outcome. Delayed diagnosis is mainly due to the rarity of the disease and physicians’ unawareness of this type of complication.
doi:10.1186/1471-2431-14-147
PMCID: PMC4065242  PMID: 24923843
Cerebral venous sinus thrombosis; Meningitis; Children; Thrombophilic evaluation
8.  The first report of adolescent TAFRO syndrome, a unique clinicopathologic variant of multicentric Castleman’s disease 
BMC Pediatrics  2014;14:139.
Background
TAFRO syndrome is a unique clinicopathologic variant of multicentric Castleman’s disease that has recently been identified in Japan. It is characterized by a constellation of symptoms: Thrombocytopenia, Anasarca, reticulin Fibrosis of the bone marrow, Renal dysfunction and Organomegaly (TAFRO). Previous reports have shown that affected patients usually respond to immunosuppressive therapy, but the disease sometimes has a fatal course. TAFRO syndrome occurs in the middle-aged and elderly and there are no prior reports of the disease in adolescents. Here we report the first adolescent case, successfully treated with anti-IL-6 receptor antibody (tocilizumab, TCZ) and monitored with serial cytokine profiles.
Case presentation
A 15-year-old Japanese boy was referred to us with fever of unknown origin. Whole body computed tomography demonstrated systemic lymphadenopathy, organomegaly and anasarca. Laboratory tests showed elevated C-reactive protein and hypoproteinemia. Bone marrow biopsy revealed a hyperplastic marrow with megakaryocytic hyperplasia and mild reticulin fibrosis. Despite methylprednisolone pulse therapy, the disease progressed markedly to respiratory distress, acute renal failure, anemia and thrombocytopenia. Serum and plasma levels of cytokines, including IL-6, vascular endothelial growth factor, neopterin and soluble tumor necrosis factor receptors I and II, were markedly elevated. Repeated weekly TCZ administration dramatically improved the patient’s symptoms and laboratory tests showed decreasing cytokine levels.
Conclusion
To our knowledge, this is the first report of TAFRO syndrome in a young patient, suggesting that this disease can occur even in adolescence. The patient was successfully treated with TCZ. During our patient’s clinical course, monitoring cytokine profiles was useful to assess the disease activity of TAFRO syndrome.
doi:10.1186/1471-2431-14-139
PMCID: PMC4088371  PMID: 24890946
Thrombocytopenia; Anasarca; reticulin Fibrosis of the bone marrow; Renal dysfunction; Organomegaly; Tocilizumab; IL-6; VEGF; Neopterin; Soluble TNF-receptors
9.  10-year-old girl with life-threatening idiopathic systemic capillary leak syndrome: a case report 
BMC Pediatrics  2014;14:137.
Background
Idiopathic systemic capillary leak syndrome (ISCLS) is a rare disorder, characterized by episodic life-threatening hypotension, hypoalbuminemia, and hemoconcentration.
Case presentation
A 10-year-old girl presented with abdominal pain, vomiting, diarrhea, fever and developed generalized edema a day after admission. Clinical and laboratory findings were consistent with ISCLS. She received aggressive fluid replacement, methylprednisolone pulse (30 mg/kg/day), high-dose intravenous immunoglobulin (IVIG, 2 g/kg/day) and plasma exchange in acute phase. She received fasciotomy of bilateral lower extremities as she developed complications of compartment syndrome. Since there were two episodes of ISCLS attacks, theophylline and terbutaline were initiated for prevention of attacks and then the remission is currently maintained. Because of high fatality rate in ISCLS, prompt diagnosis and intervention are very important.
Conclusion
We describe here, a rare case of pediatric ISCLS. ISCLS should be considered as a differential diagnosis, when the patient presents with unexplained or sudden hypovolemic shock. Reports on pediatrics ISCLS are very few, and accumulation of similar case reports is needed.
doi:10.1186/1471-2431-14-137
PMCID: PMC4229935  PMID: 24885961
Idiopathic systemic capillary leak syndrome; Vascular endothelial damage; Methylprednisolone pulse; Theophylline; Terbutaline
10.  A newborn with grouped facial skin lesions and subsequent seizures 
BMC Pediatrics  2014;14:126.
Background
Congenital grouped skin lesions are alarming signs of a variety of threatening diagnoses of quite different origin. The present case report shows an impressive clinical pattern of a neonate and illustrates the difficulty in differential diagnosis of mixed connective tissue disease and neonatal lupus erythematosus in newborns. This reported case is to our knowledge the first description of an unrecognized mixed connective tissue disease in the mother with an unusual clinical manifestation in the newborn, comprising skin lesions, neurological damage and non-typical antibody constellation.
Case presentation
We report on a Caucasian female neonate from a perinatally asymptomatic mother, who presented with grouped facial pustular-like skin lesions, followed by focal clonic seizures caused by multiple ischemic brain lesions. Herpes simplex virus infection was excluded and both the mother and her infant had the antibody pattern of systemic lupus erythematosus and neonatal lupus erythematosus, respectively. However, clinical signs in the mother showed overlapping features of mixed connective tissue disease.
Conclusion
This case report emphasizes congenital Lupus erythematosus and mixed connective tissue disease as important differential diagnoses of grouped skin lesions in addition to Herpes simplex virus-infection. The coexistence of different criteria for mixed connective tissue disease makes it difficult to allocate precisely maternal and congenital infantile disease.
doi:10.1186/1471-2431-14-126
PMCID: PMC4041904  PMID: 24884686
Congenital grouped skin lesions; Mixed connective tissue disease; Neonatal lupus erythematosus; Seizure
11.  Central retinal vein occlusion in a pediatric patient with SLE and antiphospholipid antibodies without anti-cardiolipin or anti-β2 glycoprotein I antibodies 
BMC Pediatrics  2014;14:116.
Background
Antiphospholipid antibody syndrome is characterized by venous and/or arterial thrombosis, and is found in patients with systemic lupus erythematosus. Its diagnosis requires the presence of both clinical and laboratory findings, such as positive anti-cardiolipin and anti-β2 glycoprotein I antibodies and lupus anticoagulant. However, cardiolipin is a minor component of the vascular endothelial cells in human, and phosphatidylcholine and phosphatidylethanolamine are major components.
Case presentation
A 15-year-old female suddenly developed massive left intraretinal hemorrhaging due to central retinal vein occlusion. She also had a butterfly rash, and her laboratory findings revealed positive serum anti-nuclear antibodies and decreased serum complement. During this episode, she was diagnosed with systemic lupus erythematosus. Although she was negative for serum anti-cardiolipin IgG and anti-β2 glycoprotein I antibodies as well as lupus anticoagulant, her serum anti-phosphatidylcholine, anti-phosphatidylethanolamine, anti-phosphatidylinositol and phosphatidylserine IgG antibodies levels were increased.
Conclusion
Pediatric cases of central retinal vein occlusion are rare. Even in patients without anti-cardiolipin or anti-β2 glycoprotein I antibodies and lupus anticoagulant, there is the potential for the development of antiphospholipid antibody-related thrombosis.
doi:10.1186/1471-2431-14-116
PMCID: PMC4028004  PMID: 24885875
Central retinal vein occlusion; Systemic lupus erythematosus; Antiphospholipid antibody syndrome; Anti-phosphatidylcholine antibody
12.  Acute myopia and angle closure glaucoma from topiramate in a seven-year-old: a case report and review of the literature 
BMC Pediatrics  2014;14:96.
Background
A case is reported of acute bilateral myopia and angle closure glaucoma in a 7-year-old patient from topiramate toxicity. This is the second known reported case of topiramate induced acute angle closure glaucoma and third known reported case of topiramate induced acute myopia in a pediatric patient.
Case presentation
This case presents a 7-year-old who had recently begun topiramate therapy for seizures and headache. She developed painless blurred vision and acute bilateral myopia, which progressed to acute bilateral angle closure glaucoma. After a routine eye exam where myopia was diagnosed, the patient presented to the emergency room with symptoms of acute onset blurry vision, tearing, red eyes, swollen eyelids, and photophobia. The symptoms, myopia, and angle closure resolved with topical and oral intraocular pressure lowering medications, topical cyclopentolate, and discontinuation of topiramate.
Conclusion
Acute angle closure glaucoma is a well-known side effect of topiramate, but is rarely seen in children. It cautions providers to the potential ophthalmic side effects of commonly used medications in the pediatric population. It highlights the need to keep a broad differential in mind when encountering sudden onset blurry vision in the primary care clinic, the need for careful consideration of side effects when starting topiramate therapy in a child, and the need for parental counseling of side effects.
doi:10.1186/1471-2431-14-96
PMCID: PMC3991910  PMID: 24712825
Acute angle closure; Drug reaction; Glaucoma; Elevated intraocular pressure; Seizures; Acute myopia
13.  Fetus in fetu: two case reports and literature review 
BMC Pediatrics  2014;14:88.
Background
Fetus in fetu is a rare congenital anomaly and is defined as a monozygotic twin incorporated into the abdomen of its sibling during development. Fetus in fetu is often overlooked in the differential diagnosis of an abdominal mass. Unlike teratomas, fetus in fetu is a benign disorder.
Case presentation
We describe the clinical characteristics of two patients, a thirty-months old boy who was found to have abdominal distension and a neonate who was diagnosed antenatally with abdominal mass. Computed tomography scan revealed the mass in which the contents favor a fetus in fetu rather than a teratoma. Surgical removal revealed that the anencephalic fetus have limb buds situated relative to a palpable vertebral column, supporting the diagnosis of fetus in fetu. In the present report, presentation, diagnosis, pathology, management, and recent literature are also reviewed.
Conclusion
Fetus in fetu is a rare entity that typically presents in infancy and early childhood. It should be differentiated from a teratoma because of the teratoma’s malignant potential. Preoperative diagnosis is based on radiologic findings. The treatment of fetus in fetu is operative to relieve obstruction, prevent further compression and possible complications. Complete excision allows confirmation of the diagnosis and lowers the risk of recurrence.
doi:10.1186/1471-2431-14-88
PMCID: PMC3996905  PMID: 24693883
Fetus in fetu; Teratoma; Preoperative diagnosis; Treatment
14.  Recurrent exercise-induced acute kidney injury by idiopathic renal hypouricemia with a novel mutation in the SLC2A9 gene and literature review 
BMC Pediatrics  2014;14:73.
Background
Idiopathic renal hypouricemia (iRHUC) is an autosomal recessive hereditary disorder, characterized by impaired tubular uric acid transport, re-absorption insufficiency and/or the acceleration of secretions. Some patients present with severe complications, such as exercise-induced acute kidney injury (EIAKI) and nephrolithiasis.
Case presentation
Herein, we report the case of a girl with severe iRHUC (serum urate 0.05 mg/dL, fractional excretion of uric acid 295.99%) associated with recurrent EIAKI, in whom the disease was caused by a homozygous mutation (g.68G > A in exon 3) in the SLC2A9 gene. Her family members (father, mother and brother) carried the same mutation but were heterozygous, without any signs of severe hypouricemia.
Conclusions
Our findings indicate that iRHUC is a rare disorder but that it should also be considered in patients with EIAKI, especially in those patients who manifest with moderately elevated or normal serum concentrations of uric acid during the acute phase of AKI. Mutational screening of the SLC2A9 gene is necessary for the diagnosis of iRHUC, and homozygous mutations of the SLC2A9 alleles can cause severe hypouricemia. Careful attention should be paid to any signs of hypouricemia during the recovery phase of AKI and long-term follow-up.
doi:10.1186/1471-2431-14-73
PMCID: PMC3984694  PMID: 24628802
Idiopathic renal hypouricemia; Acute kidney injury; SLC2A9; Gene mutation
15.  Hit the mark with diffusion-weighted imaging: metastases of rhabdomyosarcoma to the extraocular eye muscles 
BMC Pediatrics  2014;14:57.
Background
Rhabdomyosarcoma is the most frequent malignant intraorbital tumour in paediatric patients. Differentiation of tumour recurrence or metastases from post-therapeutic signal alteration can be challenging, using standard MR imaging techniques. Diffusion-weighted MRI (DWI) is increasingly considered a helpful supplementary imaging tool for differentiation of orbital masses.
Case presentation
We report on a 15-year-old female adolescent of Caucasian ethnicity who developed isolated bilateral thickening of extraocular eye muscles about two years after successful multimodal treatment of orbital alveolar rhabdomyosarcoma. Intramuscular restricted diffusion was the first diagnostic indicator suggestive of metastatic disease to the eye muscles. DWI subsequently showed signal changes consistent with tumour progression, complete remission under chemoradiotherapy and tumour recurrence.
Conclusions
Restricted diffusivity is a strong early indicator of malignancy in orbital tumours. DWI can be the key to correct diagnosis in unusual tumour manifestations and can provide additional diagnostic information beyond standard MRI and PET/CT. Diffusion-weighted MRI is useful for monitoring therapy response and for detecting tumour recurrence.
doi:10.1186/1471-2431-14-57
PMCID: PMC3975940  PMID: 24575889
Rhabdomyosarcoma; Metastases; Extraocular eye muscles; DWI; PET/CT
16.  Large, segmental, circular vascular malformation of the small intestine (in a female toddler with hematochezia): unusual presentation in a child 
BMC Pediatrics  2014;14:55.
Background
Failure to thrive and hematochezia in children may be alarm signs warranting endoscopy. In contrast, vascular malformations of the small intestine are uncommon in this age group. We report on a female toddler in whom various imaging techniques revealed an unusually large segmental vascular malformation of the ileum as the cause of the child’s main clinical symptoms.
Case presentation
A 19 months old girl presented with severe anemia (Hb 3 mmol/l), failure to thrive and chronic diarrhea. Diagnostics for intestinal blood loss and pathogens were negative. The child had duodenoscopy, also for histological diagnosis of celiac disease, with negative results. A dietary protocol was suggestive for inadequate iron intake and she was supplemented. After symptomless four-months the child presented again, now with mild abdominal pain and, for the first time, hematochezia. An orienting abdominal ultrasound (US) study showed a suspicious tumorous bowel condition. A subsequent detailed abdominal US supplemented by a saline enema during investigation (i.e., “hydrocolon”, to improve outlining of the formation’s localization) revealed a large circumferential cystiform vascular mass of the ileum causing segmental ileal obstruction.
Complementing preoperative abdominal hydro-MRI, planned based on the findings of the US study, confirmed the suspected vascular malformation of the ileum and exquisitely outlined the extent, location and anatomy.
The patient was successfully operated laparoscopically, the affected ileum segment with the mass was completely removed as proven by histology, and the child recovered well.
Conclusions
The huge segmental vascular malformation of the distal ileum described here is an extreme rarity in young children. Although the reported child’s presenting symptoms malabsorption and malnutrition could have been responsible for its severe anemia, this was obviously caused by blood losses from the ileal vascular malformation. It was due to incipient abdominal pain rather than hematochezia that abdominal US was performed and proved crucial for correctly diagnosing this rare malformation. Even in this extensive case detailed imaging work-up including adapted MRI added all information necessary for minimal invasive laparoscopic en bloc resection.
doi:10.1186/1471-2431-14-55
PMCID: PMC3938034  PMID: 24571577
Abdominal mass; Bowel obstruction; Gastrointestinal bleeding; Children (Child; Pediatric)
17.  Pancytopenia as an early indicator for Stevens-Johnson syndrome complicated with hemophagocytic lymphohistiocytosis: a case report 
BMC Pediatrics  2014;14:38.
Background
Stevens-Johnson syndrome (SJS) is a severe skin and mucosal bullous disease. When complicated with Hemophagocytic lymphohistiocytosis (HLH), the condition is especially life-threatening.
Case presentation
Here we report the case of a 4-year-old boy suffering from SJS with extensive erythema multiforme and bulla. Despite active intervention and supportive care, the boy experienced increased skin lesions and a higher fever. Meanwhile, decreases in white blood cell count and hemoglobin were observed. Hyperferritinemia, increased soluble CD25 level, decreased NK cell activity and hemophagocytosis in the boy’s bone marrow confirmed the diagnosis of HLH. After high-dose intravenous immunoglobulin and methylprednisone pulse therapy, the boy was discharged in good condition.
Conclusion
Simultaneous occurrence of HLH and SJS is very uncommon and the condition is life-threatening. Pancytopenia can be a precocious indicator and enables to start a prompt diagnosis and treatment.
doi:10.1186/1471-2431-14-38
PMCID: PMC3923392  PMID: 24512039
Pancytopenia; Early diagnosis; Stevens-Johnson syndrome (SJS); Hemophagocytic lymphohistiocytosis (HLH)
18.  Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr) 
BMC Pediatrics  2014;14:13.
Background
In term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidities have been reported.
Case presentation
Two extremely preterm twin infants (26 weeks of gestation) born from a Malaysian mother and a Caucasian father were presented with typical signs of meconium ileus. Despite immediate surgery both displayed a unique and finally lethal course. Mutation analysis revealed a novel, probably pathogenic cystic fibrosis mutation, p.Cys524Tyr. The novel mutation might explain the severity of disease next to typical sequelae of prematurity.
Conclusion
Preterm neonates with meconium ileus have to be evaluated for cystic fibrosis beyond ethnical boundaries, but may take devastating clinical courses despite early treatment. The novel, potentially pathogenic CF mutation p.Cys524Tyr might be associated with severe meconium ileus in neonates. Disease-modifying loci are important targets for intestinal comorbidity of cystic fibrosis.
doi:10.1186/1471-2431-14-13
PMCID: PMC3898379  PMID: 24433235
Preterm infant; Meconium ileus; Cystic fibrosis; Mutation; Disease modifying gene locus; Surgery
19.  Acute hepatitis and myositis associated with Erythema infectiosum by Parvovirus B19 in an adolescent 
BMC Pediatrics  2014;14:6.
Background
Erythema infectiosum is the most common clinical manifestation of Parvovirus B19 infection although it has also been associated with rheumatologic diseases and various types of systemic vasculitides. Acute hepatitis and benign myositis however are rarely reported in association with Parvovirus B19 infection.
Case presentation
Here we report a 14-year old male, who developed acute hepatitis and benign myositis associated with erythema infectiosum following Parvovirus B19 infection.
Conclusion
Parvovirus B19 infection has rarely been associated with acute hepatitis and exceptionally rarely with benign myositis. Parvovirus B19 should be considered in the differential diagnosis of acute non-A to E hepatitis and in the case of acute benign myositis presenting with a rash especially in children.
doi:10.1186/1471-2431-14-6
PMCID: PMC3937157  PMID: 24410941
Parvovirus B 19; Erythema infectiosum; Hepatitis; Myositis; Cyprus
20.  Simultaneous atelectasis in human bocavirus infected monozygotic twins: was it plastic bronchitis? 
BMC Pediatrics  2013;13:209.
Background
Plastic bronchitis is an extremely rare disease characterized by the formation of tracheobronchial airway casts, which are composed of a fibrinous exudate with rubber-like consistency and cause respiratory distress as a result of severe airflow obstruction. Bronchial casts may be associated with congenital and acquired cardiopathies, bronchopulmonary diseases leading to mucus hypersecretion, and pulmonary lymphatic abnormalities. In recent years, however, there is growing evidence that plastic bronchitis can also be triggered by common respiratory tract infections and thereby cause atelectasis even in otherwise healthy children.
Case presentation
We report on 22-month-old monozygotic twins presenting with atelectasis triggered by a simple respiratory tract infection. The clinical, laboratory, and radiographic findings given, bronchial cast formation was suspected in both infants but could only be confirmed after bronchoscopy in the first case. Real-time polymerase chain reaction of the removed cast as well as nasal lavage fluid of both infants demonstrated strong positivity for human bocavirus.
Conclusion
Our case report is the first to describe two simultaneously affected monozygotic twins and substantiates the hypothesis of a contributing genetic factor in the pathophysiology of this disease. In this second report related to human bocavirus, we show additional evidence that this condition can be triggered by a simple respiratory tract infection in previously healthy infants.
doi:10.1186/1471-2431-13-209
PMCID: PMC3878367  PMID: 24344641
Bronchial casts; Plastic bronchitis; Atelectasis; Children; Respiratory tract infection; Human bocavirus
21.  Acute dyskinesia, myoclonus, and akathisa in an adolescent male abusing quetiapine via nasal insufflation: a case study 
BMC Pediatrics  2013;13:187.
Background
Although the benefits of antipsychotic pharmacotherapy can be pronounced, many patients develop unwanted adverse effects including a variety of movement disorders. Compared with the traditional antipsychotics, the atypical antipsychotics have a decreased risk for associated movement disorders. Drug-induced movement disorders can occur, however, and the risk of adverse events can increase significantly when medications are abused.
Case presentation
We describe the case of a 13-year-old male who presented to an emergency department with acute movement disorders after nasal insufflation of crushed quetiapine. The patient was admitted and successfully treated for neuroleptic toxicity with intravenous antihistamine pharmacotherapy. His primary care provider and psychiatrist were notified of the abuse, quetiapine was discontinued, and the patient was discharged and referred to a drug and alcohol awareness and abuse program.
Conclusions
The abuse of quetiapine has unfortunately become more common. This unique case report of acute movement disorders following nasal insufflation of quetiapine highlights the need for heightened vigilance when prescribing quetiapine and for increased awareness and education regarding medication-abuse.
doi:10.1186/1471-2431-13-187
PMCID: PMC4225618  PMID: 24238149
Tardive dyskinesia; Medication abuse; Quetiapine insufflation
22.  Arthrogryposis in infancy, multidisciplinary approach: case report 
BMC Pediatrics  2013;13:184.
Background
Arthrogryposis multiplex congenita is an etiopathogenetically heterogeneous disorder characterised by non-progressive multiple intra-articular contractures, which can be recognised at birth. The frequency is estimated at 1 in 3,000 newborns. Etiopathogenesis of arthrogryposis is multifactorial.
Case presentation
We report first 26 weeks of life of a boy with severe arthrogryposis. Owing to the integrated rehabilitation approach and orthopaedic treatment a visible improvement in the range of motion as well as the functionality of the child was achieved. This article proposes a cooperation of various specialists: paediatrician, orthopaedist, specialist of medical rehabilitation and physiotherapist.
Conclusions
Rehabilitation of a child with arthrogryposis should be early, comprehensive and multidisciplinary. Corrective treatment of knee and hip joints in infants with arthrogryposis should be preceded by the ultrasound control. There are no reports in the literature on the ultrasound imaging techniques which can be used prior to the planned orthopaedic and rehabilitative treatment in infants with arthrogryposis. The experience of our team indicates that such an approach allows to minimise the diagnostic errors and to maintain an effective treatment without the risk of joint destabilisation.
doi:10.1186/1471-2431-13-184
PMCID: PMC3833971  PMID: 24215600
Infant; Arthrogryposis; Rehabilitation
23.  Systemic lupus erythematosus and granulomatous lymphadenopathy 
BMC Pediatrics  2013;13:179.
Background
Systemic lupus erythematosus (SLE) is known to present with a wide variety of clinical manifestations. Lymphadenopathy is frequently observed in children with SLE and may occasionally be the presenting feature. SLE presenting with granulomatous changes in lymph node biopsy is rare. These features may also cause diagnostic confusion with other causes of granulomatous lymphadenopathy.
Case presentation
We report 12 year-old female who presented with generalized lymphadenopathy associated with intermittent fever as well as weight loss for three years. She also had developed anasarca two years prior to presentation. On presentation, she had growth failure and delayed puberty. Lymph node biopsy revealed granulomatous features. She developed a malar rash, arthritis and positive ANA antibodies over the course of next two months and showed WHO class II lupus nephritis on renal biopsy, which confirmed the final diagnosis of SLE. She was started on oral prednisolone and hydroxychloroquine with which her clinical condition improved, and she is currently much better under regular follow up.
Conclusion
Generalized lymphadenopathy may be the presenting feature of SLE and it may preceed the other symptoms of SLE by many years as illustrated by this patient. Granulomatous changes may rarely be seen in lupus lymphadenitis. Although uncommon, in children who present with generalized lymphadenopathy along with prolonged fever and constitutional symptoms, non-infectious causes like SLE should also be considered as a diagnostic possibility.
doi:10.1186/1471-2431-13-179
PMCID: PMC3827830  PMID: 24192007
Granulomatous; Lymphadenopathy; SLE
24.  Intracranial hypertension presenting with severe visual failure, without concurrent headache, in a child with nephrotic syndrome 
BMC Pediatrics  2013;13:167.
Background
Idiopathic intracranial hypertension is a condition typically characterised by headache, normal level of consciousness, papilloedema and raised cerebrospinal fluid pressure. Children often present with visual loss and atypical features of raised pressure, posing a diagnostic and management challenge. A range of renal disorders can predispose to developing this raised intracranial pressure syndrome. We present a case of severe visual failure in a child with nephrotic syndrome, with no headache when elevated pressure was proven. In nephrotic syndrome, visual failure related to elevated intracranial pressures without concurrent headache symptoms has not been reported previously.
Case presentation
We discuss a 5-year-old Caucasian girl with steroid sensitive nephrotic syndrome who went on to become a late non-responder and presented with intracranial hypertension. Following initial response to steroids, she had a relapse of her nephrotic syndrome; her proteinuria did not resolve on steroid treatment, requiring addition of cyclosporine therapy to manage her nephrotic syndrome. Three months following this, she presented with visual failure in the right eye with bilateral central scotoma and papilloedema. At the time of presentation of visual impairment, she was otherwise well, with no symptoms of a raised intracranial pressure syndrome or associated systemic illness. Medical management was initiated following confirmation of a raised intracranial pressure. Her intracranial pressure remained elevated requiring serial therapeutic lumbar punctures before some improvement in visual acuity was observed. Later in the clinical course, she presented with worsening of her visual impairment with further deterioration of the vision in the left eye, again associated with elevated intracranial pressure. An urgent surgical cerebrospinal fluid diversion procedure was performed. At review, three years after presentation our patient has severe visual impairment with no perception of light in her right eye and 6/36 Snellen acuity in the left secondary to optic atrophy.
Conclusion
Our case demonstrates the occurrence of intracranial hypertension in nephrotic syndrome, highlighting the atypical presentation of severe visual failure without concurrent headache at presentation. This demonstrates the management complexities and the need for clear guidelines for ophthalmological surveillance to aim to reduce permanent visual impairment.
doi:10.1186/1471-2431-13-167
PMCID: PMC3851983  PMID: 24112785
Pseudotumour cerebri; Benign intracranial hypertension; Idiopathic intracranial hypertension; Optic atrophy; Papilloedema; Cyclosporine
25.  Atypical X-linked agammaglobulinaemia caused by a novel BTK mutation in a selective immunoglobulin M deficiency patient 
BMC Pediatrics  2013;13:150.
Background
X-linked agammaglobulinaemia (XLA) is the most common inherited humoural immunodeficiency disorder. Mutations in the gene coding for Bruton’s tyrosine kinase (BTK) have been identified as the cause of XLA. Most affected patients exhibit a marked reduction of serum immunoglobulins, mature B cells, and an increased susceptibility to recurrent bacterial infections. However, the diagnosis of XLA can be a challenge in certain patients who have near-normal levels of serum immunoglobulin. Furthermore, reports on XLA with renal involvement are scant.
Case presentation
We report an atypical XLA patient who presented with selective immunoglobulin M (IgM) immunodeficiency and nephropathy. He was diagnosed with selective IgM immunodeficiency, based on his normal serum immunoglobulin G (IgG) and immunoglobulin A (IgA) levels but undetectable serum IgM level. Intravenous immunoglobulin was initiated due to increased infections and persistent proteinuria but no improvement in proteinuria was found. A lupus-like nephritis was detected in his kidney biopsy and the proteinuria subsided after receiving a mycophenolate mofetil regimen. Although he had a history of recurrent bacterial infections since childhood, XLA was not diagnosed until B-lymphocyte surface antigen studies and a genetic analysis were conducted.
Conclusions
We suggest that B-lymphocyte surface antigen studies and a BTK mutation analysis should be performed in familial patients with selective IgM deficiency to rule out atypical XLA.
doi:10.1186/1471-2431-13-150
PMCID: PMC3849551  PMID: 24074005
X-linked agammaglobulinaemia; Bruton’s tyrosine kinase; Proteinuria; Haematuria; Immunoglobulin

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