Although it is a sporadic disease, few studies have reported cases of Guillain Barre Syndrome (GBS) in families which postulate a genetic susceptibility. Human leukocyte antigen (HLA) typing is an area of discussion in GBS though none of them are considered definitive. In recent years, more studies have evaluated HLA typing in sporadic cases while rarely it has been assessed in familial ones. We report a woman and her daughter experiencing GBS and their HLA typing in a 2-year interval.
Familial; Guillain Barre syndrome; human leukocyte antigen typing
Chronic active Epstein Barr virus (EBV) infection causes a wide spectrum of manifestation, due to meningeal, parenchymal and vascular involvement. An 11-year-old boy presented with chronic headache, fever and seizures of 18 months duration. His magnetic resonance imaging Brain showed fusiform aneurysmal dilatations of arteries of both the anterior and posterior cerebral circulation. Cerebrospinal fluid (CSF) showed persistent lymphocytic pleocytosis, raised proteins and low sugar with positive polymerase chain reaction for EBV. He later developed pancytopenia due to bone marrow aplasia, with secondary infection and expired. From clinical, imaging and CSF findings, he had chronic lymphocytic meningitis with vasculopathy, which was isolated to the central nervous system. He later had marrow aplasia probably due to X-linked lymphoproliferative disorder related to EBV infection. Vasculopathy, especially diffuse fusiform aneurysmal dilatation associated with chronic EBV infection, is rare, but has been described, similar to our case report.
Epstein Barr virus; fusiform aneurysmal dilatations; lymphoproliferative disorder; vasculopathy
Henoch-Schonlein purpura (HSP) is a small vessel vasculitis that is rare in adults. Here, we present a case of a woman who presented with palpable purpura, abdominal pain, arthritis and ischemic stroke. The patient met the diagnostic criteria of HSP. However, cerebrovascular disease is reported as an uncommon, yet fatal, complication of HSP. The patient responded to aggressive immunosuppression with pulses of corticosteroids and cyclophosphamide. In the absence of an established protocol of treatment of such neurologic emergency in HSP patients, this report demonstrates a successful outcome.
Cyclophosphamide; Henoch-Schonlein purpura; ischemic stroke
A 12-year-old female child with motor developmental delay presented with persistent vomiting, recurrent falls and unsteadiness in dark since 2 years of age. There was decline in scholastic performance, bulbar symptoms and aggravation of symptoms during intercurrent illness. Clinically, she had frontal and parietal lobar dysfunction, dysarthria, optic atrophy and LMN VII, IX, X, XII cranial nerve involvement. There was generalized hypotonia, distal muscle wasting, weakness, cerebellar signs and impaired vibration/position sense in distal extremities. Biochemical investigations revealed elevated serum/cerebrospinal fluid (CSF) lactate and CSF lactate pyruvate ratio. Neuroimaging demonstrated bilateral symmetrical T2 hyperintensities in basal ganglia, subcortical white matter, cerebellar hemispheres and posterior aspect of spinal cord. As certain atypical features like bilateral symmetrical T2 hyperintensities in subcortical white matter were also seen, metachromatic leukodystrophy was considered in differential diagnosis but ruled out by nerve biopsy. This case is reported for the presence of atypical neuroimaging features that are rarely found in Leigh's disease.
Basal ganglia; cerebellum; lactate; metachromatic leukodystrophy; white matter
The atypical neuroleptic, olanzapine (OLZ), may induce electroencephalographic (EEG) abnormalities. The anticonvulsant, lamotrigine (LMG), reduces interictal epileptiform discharges and is effective in seizures in patients with both primary and partial epilepsy syndromes. The effect of LMG on neuroleptic-induced EEG abnormalities has not been previously reported. We describe the case of a 13-year-old male with paroxysmal nonepileptic spells who underwent diagnostic video-EEG telemetry, whose abnormal OLZ-induced EEG findings were strikingly affected by LTG withdrawal and reintroduction. The effect of LTG in normalizing EEG changes in suspected epilepsy caused by atypical neuroleptics is discussed.
Electroencephalographic; epilepsy; neuropsychiatry; psychopharmacology
Valproic acid (VPA) is a commonly used broad-spectrum antiepileptic drug especially in children, with various side-effects reported with its usage. Hematologic toxicity is dose related and intracranial bleeding complications have been reported. We are reporting a rare case of massive scalp hematoma requiring surgical intervention, following a trivial fall associated with high-VPA levels.
Scalp hematoma; valproic acid toxicity; hematotoxicity
Thromboembolism is a rare complication in patients with myotonic dystrophy. While immobilization of patients with advanced disease predisposes to high risk for venous thromboembolism, hypercoagulability could account for venous thromboembolism in patients without impaired mobilization. We report a patient with myotonic dystrophy type 1 who developed pulmonary thromboembolism unrelated to immobilization.
Hypercoagulability; myotonic dystrophy; pulmonary thromboembolism
A 32 year old Asian female on 300 mg per day of phenytoin following meningioma excision developed a fever with a diffuse maculopapular rash, lymphadenopathy and splenomegaly after12 days. A diagnosis of DRESS (Drug Rash Eosinophilia and Systemic Symptoms) syndrome was made. Patient was started on prednisolone at a dose of 1 mg/kg but since there was further deterioration in her condition, intravenous immunoglobulin was started. Clinical and blood parameters began to improve by the next day with liver functions returning to normal by the third week. DRESS syndrome is a drug hypersensitivity syndrome which can be fatal and therefore needs to be recognized early for the appropriate treatment to be started. The use of Intravenous immunoglobulins is anecdotal and the dramatic improvement noted in this case indicates that it is another treatment choice. The case and a brief review of the literature are discussed.
Drug rash eosinophilia systemic symptoms; intravenous immunoglobulins; phenytoin
We report an adolescent girl who had left-sided neurogenic thoracic outlet syndrome (TOS) due to impingement of the scalenus anterior muscle with bilateral changes on nerve conduction studies and responded well to surgical decompression. A 13-year-old Caucasian girl presented with intermittent pain, swelling, erythema, tingling and numbness of the palmar aspect of her left hand. Nerve conduction studies revealed bilateral ulnar sensory and motor conduction abnormalities, suggesting early compressive neuropathy in the asymptomatic arm as well. She underwent surgical exploration when it was noted that the scalenus anterior itself was impinging on the brachial plexus. She had a good clinical response to scalenectomy. The diagnosis of neurogenic TOS remains difficult as no single test has been accepted as a gold standard. But, once diagnosed using clinical symptoms, nerve conduction studies, electromyography and radiological investigations, it is a treatable condition with good prognosis.
Disease management; scalenus anticus syndrome; thoracic outlet syndrome
Cerebral venous sinus thrombosis (CVT) is a rare cerebrovascular disease with variable presentation. CVT rarely causes hydrocephalus. Communicating hydrocephalus due to CVT is extremely rare. We describe a patient of CVT presenting with chronic headache and communicating hydrocephalus. The patient was successfully treated with ventriculoperitoneal (VP) shunt. A 40 year old man presented with moderate to severe headache since six months and progressive visual loss since two months. Head Computed tomogram showed mild hydrocephalus without obstruction. Lumbar puncture (LP) demonstrated elevated pressure but was otherwise normal. Magnetic resonance venogram showed extensive CVT. Repeated CSF drainage and thecoperitoneal shunt did not relieve the severe headache hence a VP shunt was placed. Post shunt headache subsided with resolution of hydrocephalus. CVT can present as communicating hydrocephalus. Gradual reduction of intra-ventricular pressure by repeated LPs followed by VP shunt can safely treat hydrocephalus due to CVT.
Cerebral venous sinus thrombosis; hydrocephalus; ventriculoperitoneal shunt
Subacute sclerosing panencephalitis (SSPE) is chronic encephalitis occurring after infection with measles virus. An 8-year-old boy presented with progressive behavioral changes, cognitive decline and myoclonic jerks, progressing to a bed bound state over 2 months. Magnetic resonance imaging (MRI) brain showed T2-weighted hyperintensities in the subcortical areas of the left occipital lobe and brachium of the inferior colliculus on both sides. EEG showed bilateral, synchronous periodic discharges. Serum/cerebrospinal fluid measles IgG titer was significantly positive. The overall features were suggestive of SSPE. MRI finding of bilateral inferior colliculus changes on MRI without significant involvement of other commonly involved areas suggests an uncommon/rare imaging pattern of SSPE.
Brachium of inferior colliculus; measles; subacute sclerosing panencephalitis
Disorders of lipid metabolism can cause variable clinical presentations, often involving skeletal muscle, alone or together with other tissues. A 19-year-old boy presented with a 2-year history of muscle pain, cramps, exercise intolerance and progressive weakness of proximal lower limbs. Examination revealed skeletal markers of Marfan syndrome in the form of increased arm span compared with height, Kyphoscoliois, moderate pectus excavatum, high arched palate and wrist sign. He also had mild neck flexor weakness and proximal lower limb weakness with areflexia. Pathologic findings revealed lipid-laden fine vacuoles in the muscle fibers. Possibility of carnitine deficiency myopathy was considered and the patient was started on carnitine and Co Q. The patient made remarkable clinical improvement over the next 2 months. This case is reported for rarity of the association of clinical markers of Marfan syndrome and lipid storage myopathy and sparse literature on lipid storage myopathy in the Indian context.
Carnitine deficiency myopathy; lipid storage myopathy; Marfan syndrome; muscle biopsy; neuromuscular diseases
18-Fluoro-2-deoxy-D-glucose(FDG) is a structural analog of 2-deoxyglucose and accumulates in malignant tissues but also at sites of infection and inflammation. For this reason, FDG PET or PET/CT has great advantage in understanding of underlying pathology in assessment of FUO (Fever of unknown origin). However, till today, there are limited studies about the role of FDG PET or PET/CT in evaluation of FUO. Conventional diagnostic methods are still not adequate to reveal underlying reason in approximately 50% of patients with FUO especially in cases presenting with diagnostic challenges i.e. involvement of two or more organ systems with seemingly no correlation. We report a case of two years old Indian female child who presented with fever of one month duration, CT and MRI reported nonspecific findings. She underwent Whole body 18 FDG PET/CT for further evaluation, which revealed FDG avid rim lesion with central photopenic defect suspicious of pyogenic abscess in high parietal cortex along with bilateral lung nodules. This confirmed the diagnosis of a brain abscess secondary to pulmonary infection. We emphasize the utility of 18 FDG PET/CT as imaging modality, highlight the diagnostic difficulties using current serological and radiological measures, and propose managing FUO with 18 FDG PET/CT in cases empirically prior to more invasive measures.
18-FDG PET/CT; bacteremia; brain abscess; fever of unknown origin; magnetic resonance imaging
Hyperkalemia manifests clinically with acute neuromuscular paralysis, which can simulate Guillain Barré syndrome (GBS) and other causes of acute flaccid paralysis. Primary hyperkalemic paralysis occurs from genetic defects in the sodium channel, and secondary hyperkalemic paralysis (SHP) from diverse causes including renal dysfunction, potassium retaining drugs, Addison's disease, etc. Clinical characteristics of SHP have been addressed in a number of publications. However, electrophysiological evaluations of these patients during neuromuscular paralysis are infrequently reported and have demonstrated features of demyelination. The clinical features and electrophysiological abnormalities in secondary hyperkalemia mimic GBS, and pose diagnostic challenges. We report the findings of nerve conduction studies in a middle-aged man who was admitted with rapidly reversible acute quadriplegia resulting from secondary hyperkalemic paralysis.
Conduction block; hyperkalemia; nerve conduction studies; secondary hyperkalemic paralysis
Emery-Dreifuss myopathy can be associated with a cardiomyopathy and cardiac dysrhythmias. The inheritance pattern of Emery-Dreifuss muscular dystrophy (EDMD) is X linked, whereas EDMD2 is autosomal dominant. EDMD2 is caused by lamin A/C gene (LMNA) mutations that produce alterations in the lamin proteins that are integral to nuclear and cell integrity. A 53-year-old man was brought to us with a right internal carotid artery dissection. Detailed work-up of the patient and family members revealed some unusual features, and genetic sequencing of the LMNA gene was undertaken. A novel mutation was identified in two of the samples sent for analysis. We present the first Indian family of EDMD2 with familial dilated cardiomyopathy and cardiac dysrhythmias in whom LMNA gene sequencing was performed. A novel mutation was identified and additional unusual clinical features were described.
Calcified AV node; cardiac conduction system calcification; cardiomyopathy; EDMD; familial DCM; LMNA mutation; myopathy
Neuropathic arthropathy of the shoulder is a relatively rare disorder characterized by destruction of joint secondary to loss of sensory innervation. Bilateral Charcot arthropathy is an even rarer disorder, with very few cases reported in the English literature. We herein present a case of bilateral shoulder arthropathy secondary to syringomyelia with classical clinical and radiological findings. Radiological finding on one side was of resorptive type and resorptive mixed with productive on the other side.
Charcot joint; shoulder; syringomyelia
Paraneoplastic cerebellar degeneration (PCD) is a rare disorder presenting typically with acute or subacute severe cerebellar ataxia. PCD is most commonly associated with small cell lung cancer followed by adenocarcinoma of breast and ovary, and Hogdkin's lymphoma. We report a case of a 54-year-old male with acute-onset pancerebellar syndrome with underlying Hodgkin's lymphoma. A high index of suspicion of PCD resulted in arriving at an early diagnosis of underlying Hodgkin's disease. The patient was managed with six cycles of chemotherapy, which resulted in clinical stabilization and reversal of magnetic resonance imaging abnormalities. Antitumor therapy appears to have a significant impact on reversing PCD and hence early diagnosis and intervention for the primary remains the corner stone in stabilizing the neurological condition.
Anti-Tr antibody; cerebellar degeneration; Hodgkin's lymphoma; paraneoplastic syndrome
Posterior reversible encephalopathy syndrome (PRES) is a clinical and radiologic entity with typical symptoms including headache, seizures, visual disturbance, altered mental status, vomiting, nausea and focal neurologic signs. In this article, we report recurrent and atypical PRES in a child with hypertension due to end-stage renal disease (ESRD) who was on a peritoneal dialysis program for 6 months. After the second hypertension attack, PRES findings did not recover and persisted as encephalomalacia. As far as we know, this case is the first child with ESRD who developed encephalomalacia after recurrent episodes of PRES. When a patient with a history of PRES presented with new clinical and neuroradiological findings, recurrent PRES should be considered.
Child; end-stage renal disease; recurrent posterior reversible encephalopathy syndrome
Some orthopedic complications have been reported in the hereditary neuropathies. However, the association of the hip dysplasia with this category of neuropathy is rarely recognized. We present a 13-year-old boy with the progressive weakness of the lower extremities, difficulty in walking, climbing stairs, and rising from floor; a wide-based, hyper-extended and waddling gait similar to a myopathic process. Hip radiography showed dysplastic acetabulae with hip subluxation, broken Shenton's lines, and valgus femoral necks. In electrodiagnosis, there was a significant neuropathic process (absent all evoked sensory potentials, abnormal evoked motor responses, and neurogenic electeromyography) which eventually was found to be a hereditary mixed axonal and demyelinating sensorimotor polyneuropathy with concomitant hip dysplasia confirmed with thorough physical examination and the electrodiagnostic study. In patients with gait difficulties such as waddling gait mimicking a myopathic process, hereditary polyneuropathy complicated with hip dysplasia should be considered as well.
Charcot-Marie-Tooth disease; hereditary motor and sensory neuropathy; hip dysplasia
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurodegenerative disease seen mainly in the Aggarwal community in India. It is characterized by early-onset macrocephaly with mild motor developmental delay, gradual onset ataxia, spasticity, seizures and usually late onset mild cognitive deterioration. Very few familial cases of MLC have been reported in the world literature, and to the best of our knowledge, there is no published study of all three siblings affected with MLC in a same family. Here, we are reporting three siblings belonging to a non-Aggarwal Hindu family, affected with MLC, who presented with early-onset macrocephaly and gradual onset ataxia.
Macrocephaly; megalencephalic leukoencephalopathy; subcortical cysts; white matter degeneration
Opportunistic infections usually occur in patients with an immunocompromised state, and can be severe. Cryptoccocal meningitis is a fatal condition if left untreated, and is usually found in such patients. We report the case of an adult patient with cryptoccocal meningitis secondary to intestinal lymphangiectasia. A 30 year old female was admitted to our hospital for meningitis. Biochemical and radiological investigations were performed. A cerebrospinal fluid latex agglutination test showed positive cryptoccocal antigen. In addition, there were features of humoral and cell mediated immunity deficiency (lymphopenia, hypoalbuminemia, hypogammaglobulinemia), with a negative human immunodeficiency virus (HIV) test by enzyme linked immunosorbent assay and polymerase chain reaction. An upper gastroduodenoscopy was performed, which showed multiple lymphangiectasias, and a biopsy confirmed the diagnosis of primary intestinal lymphangiectasia (PIL). The patient was treated with intravenous amphotericin B and oral flucytosine, and the meningitis resolved. PIL should be suspected in patients with cryptoccocal meningitis, combined with humoral and cell mediated immunity with a negative HIV test. The management issues, in addition to antifungal therapy, include nutritional supplements for the protein losing enteropathy.
Cryptoccocal meningitis; cellular and humoral immunity; intestinal lymphangiectasia
We report a case of rabies viral encephalitis in a 48-year-old male with an unusually long incubation period, historically suspected to be more than 20 years. The case was referred for histological diagnosis following alleged medical negligence to the forensic department. The histology and immunocytochemical demonstration of rabies viral antigen established the diagnosis unequivocally. The case manifested initially with hydrophobia and aggressive behavior, although he suddenly went to the bathroom and drank a small amount of water. History of dog bite 25 years back was elicited retrospectively following clinical suspicion. There was no subsequent history to suggest nonbite exposure to a rabid dog to consider recent event causing the disease, although this cannot be totally excluded.
Long incubation period; Negri bodies; rabies; viral antigen
Idiopathic orbital inflammation is the third most common orbital disease, following Graves orbitopathy and lymphoproliferative diseases. We present a 11 year old girl with 15 days history of painless diplopia. There was no history of fluctuation of symptoms, drooping of eye lids or diminished vision. She had near total restricted extra-ocular movements and mild proptosis of the right eye. There was no conjunctival injection, chemosis, or bulb pain. There was no eyelid retraction or lid lag. Rest of the neurological examination was unremarkable.Erythrocyte sedimentation rate was raised with eosinophilia. Antinuclear antibodies were positive. Liver, renal and thyroid functions were normal. Antithyroid, double stranded deoxyribonucleic acid and acetylcholine receptor antibodies were negative. Repetitive nerve stimulation was negative. Magnetic resonance imaging (MRI) of the orbit was typical of orbital myositis. The patient responded to oral steroids. Orbital myositis can present as painless diplopia. MRI of orbit is diagnostic in orbital myositis.
Idiopathic orbital inflammation; orbital pseudotumor; orbital myositis; painless
Kennedy's disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed. Klinefelter's syndrome is a variation of sex chromosome disorder characterized by hypogonadism, gynecomastia and azoospermia, and the most frequent karyotype is XXY. A 55-year-old man who presented with slowly progressive and diffuse neurogenic muscle atrophy without bulbar or sensory symptoms. He also had Klinefelter's syndrome. Genetic study of Kennedy's disease was normal. Our patient differs from those with Kennedy's disease in the absence of bulbar and sensory symptoms. It is suggested that the X chromosome plays an important role in the biology of motor neurons.
Electromyogram; gynecomastia; Klinefelter's syndrome; Kennedy's disease; muscle biopsy; progressive muscular atrophy