Vision impairment is one of the devastating complications of central nervous system tuberculosis (CNS TB). Optic atrophy is a sequelae of various forms of CNS TB which, ultimately, is responsible for vision impairment. It is usually the secondary optic atrophy which occurs in CNS TB. In this case report, we present two cases of CNS tuberculosis developing primary optic atrophy, which is infrequently reported. The relevant pathophysiology and causes of vision impairment in CNS TB are also discussed.
Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be caused by the abnormal folding of proteins called prion proteins. The ‘Heidenhain variant’ is a subclass of patients with CJD, who present with isolated visual symptoms at the onset without any cognitive decline. Here we report such a case of an elderly man presenting with progressive diminution of vision, forgetfulness, abnormal behaviour, myoclonic jerks and akinetic mutism since the last 5 months. On clinical examination, lead pipe rigidity was present in all four limbs, and plantars were bilateral extensors. In view of rapidly progressive dementia associated with myoclonus, a possibility of CJD was entertained. As visual symptoms preceded dementia, hence the Heidenhain variant was strongly suspected. MRI of the brain revealed cortical ribboning, and EEG showed periodic triphasic waveforms with background slowing. The patient succumbed to the illness within 1 month of hospitalisation.
An 8-year-old girl presented to the neurology department with a complaint of insidious onset of left-sided ptosis and restricted elevation of the left eye. A CT scan orbit and brain revealed a ring-enhancing lesion in the levator palpebral superioris (LPS) and superior rectus (SR) muscle complex of the left eye and left parietal and right temporal region. She was started on steroid, followed by albendazole with improvement. The LPS/SR complex is the least common site of involvement among extraocular muscles in ocular cysticercosis. Specially, with brain neurocysticercosis (NCC), it is extremely rare. We report an unusual association of multiple brain NCC with ocular cysticercosis involving LPS and SR muscle.
In India, Atlantoaxial dislocation (AAD) is the commonest skeletal craniovertebral junction (CVJ) anomaly, followed by occipitalisation of atlas and basilar invagination. The usual presentation is progressive neurological deficit (76–95% cases) involving the high cervical cord, lower brainstem and cranial nerves. The association between vertebro-basilar insufficiency and skeletal CVJ anomalies is well recognised and angiographic abnormalities of the vertebrobasilar arteries and their branches have been reported; however, initial presentation of CVJ anomaly as thalamic syndrome due to posterior circulation stroke is extremely rare. Here, we report one such rare case of thalamic syndrome as the initial presentation of CVJ anomaly with AAD.
Replenishing melanocytes by autologous melanocytes selectively in vitiliginous macules is a novel and promising treatment. With expertise in culturing autologous melanocytes, it has now become possible to treat larger recipient areas with smaller skin samples. To determine the relative efficacy of cultured versus non cultured melanocyte transfer in the management of stable vitiligo.
The melanocytes were harvested as an autologous melanocyte rich cell suspension from a donor split thickness graft. Cultured or non cultured melanocytes were then transplanted to the recipient area that had been superficially dermabraded. 100 patches of vitiligo in patients reporting to this hospital were randomly allocated into 2 groups to receive either of the interventions.
An excellent response was seen in 62.17% cases with the autologous melanocyte rich cell suspension technique and in 52% with the melanocyte culture technique.
Autologous melanocyte transplantation can be an effective form of surgical treatment in stable but recalcitrant lesions of vitiligo. Large areas of skin can be covered with a smaller donor skin using melanocyte culture technique; however culture method is more time consuming, and a labour intensive process, requiring state of the art equipments with a sterile lab setup.
Autologous melanocyte transplantation; Melanocyte rich cell suspension; Melanocyte culture; Vitiligo
An 18-year-old lady had presented to us with insidious onset progressive gait ataxia of 5-year duration. Her sister had similar complaints and type 1 diabetes mellitus. Examination revealed, gait ataxia, impaired tandem gait, babinski sign and severe swaying on testing for Romberg's sign. All deep tendon reflexes were exaggerated. On investigations, there was no evidence for diabetes mellitus or nutritional deficiencies. Electrocardiogram and echocardiogram were normal. Magnetic spine resonance showed marked atrophy of cervical cord with normal cerebellum. The genetic testing disclosed expanded GAA repeat length on both alleles of FXN gene. The GAA repeat length on both alleles was much less than mean length observed in Friedreich's ataxia. This case highlights how strongly the genotype influences the neurological and systemic manifestations as well as severity of disease in Friedreich's ataxia.
Severe cutaneous drug reactions are one of the commonest medical challenges presenting to an emergency room in any hospital. The manifestations range from maculopapular rash to severe systemic symptoms like renal failure and cardiovascular compromise. Toxic epidermal necrolysis, erythroderma, drug rash with eosinophilia and systemic symptoms, acute generalised exanthematous pustulosis and drug induced vasculitis are the common cutaneous drug reactions which can have severe morbidity and even mortality. Careful history taking of the lag period after drug intake and associated symptoms, along with detailed examination of the skin, mucosa and various systems, help in early diagnosis of these reactions. Early stoppage of the incriminating drug, specific therapy including corticosteroids, cyclosporine and intravenous immunoglobulin depending on the case along with supportive therapy and local measures help in salvaging most patients. An overview of these important cutaneous drug reactions along with their management is being reviewed in this article.
Cutaneous drug reaction; Toxic epidermal necrolysis; Erythroderma; DRESS; Vasculitis
Vision loss can be a consequence of numerous disorders of eye and neural pathway conveying visual input to brain. A variety of conditions can affect visual pathway producing neurogenic vision loss. The presentation and course of vision loss depends on the site of involvement and underlying etiology. We conducted this unprecedented study to evaluate the characteristics and outcome of various diseases of the visual pathway.
Materials and Methods:
In this prospective cohort study, we evaluated 64 patients with neurogenic visual impairment. Ophthalmological causes were excluded in all of them. Their presentation, ophthalmological characteristics and investigation findings were recorded. These patients were followed up till 6 months.
Out of 69 patients evaluated, 5 were excluded as they had ophthalmological abnormalities. The remaining 64 cases (113 eyes) were enrolled. 54 cases were due to diseases of anterior visual pathway and rest 10 had cortical vision loss. The etiologic distribution is as follows: Isolated optic neuritis- 12 (19%), multiple sclerosis- 4 (6.3%), neuromyelitis optica- 5 (7.9%), tubercular meningitis- 15 (23.8%), non-arteritic ischemic optic neuropathy, ischemic optic neuropathy complicating cavernous sinus thrombosis, cryptococcal meningitis, malignant infiltration of optic nerve, Crouzon's syndrome, calvarial thickening and traumatic occipital gliosis- 1 (1.6%) case each, idiopathic intracranial hypertension, pituitary adenoma, acute disseminated encephalomyelitis, posterior reversible leukoencephalopathy- 3 (4.8%) cases each, cortical venous thrombosis 5 (7.9%), subacute scleroing panencephalitis- 4 (6.3%) cases.
The diseases of anterior visual pathway were much more common than cortical vision loss. A majority of our patients had severe impairment of vision at presentation.
Cortical venous thrombosis; optic neuritis; vision loss
Tuberculosis is probably as old as the human race itself. Cutaneous tuberculosis constitutes a very small proportion of extra pulmonary tuberculosis. Extensive, multifocal involvement of cutaneous tuberculosis is a very rare manifestation. We report one such case of extensive, multifocal tuberculosis verrucosa cutis in a 30-year-old immunocompetent male patient in the absence of any primary tubercular focus.
Cutaneous tuberculosis; extensive; multifocal; tuberculosis verrucosa cutis
Anoscrotal median raphe sinus is an extremely rare entity in children. We report a pediatric patient and describe the management of this condition.
Congenital scrotal sinus; median raphe sinus; scrotal sinus
A 6-year-old girl presented with history of fever, headache and partial seizures with secondary generalisation. The cerebrospinal fluid analysis revealed pleocytosis and elevated proteins. The clinical evaluation and cerebrospinal fluid analysis was suggestive of chronic meningitis. The patient was started antituberculous therapy considering tuberculous meningitis. The authors report this case because MRI of brain showed multiple cysticerci throughout the brain parenchyma which was completely missed on CT brain. Antituberculosis treatment was withdrawn and the patient was advised albendazole, antiepileptic drug and steroids. The patient showed remarkable improvement at follow-up after 3 months.
Systemic lupus erythematosus (SLE) is a chronic inflammatory multi-system disease characterised by varied clinical manifestation and immunological abnormalities. The clinical presentation of the disorder has wide spectra, from an asymptomatic presentation to a severe life-threatening disease affecting several organs. The sole manifestation of lupus erythematosus could be neurological syndrome, where diagnosis of SLE is difficult to establish. The authors intended to report a young female, who initially developed left-sided hemiparesis due to tumefactive demyelination, later on diagnosed as case of SLE. The association of tumefactive demyelination and SLE has not been previously reported in the literature.
Reticulate hyperpigmentary disorders are a group of rare genetic pigmentary abnormalities which includes reticulate acropigmentation of Kitamura (RAPK), Dowling-Degos disease (DD), reticulate acropigmentation of Dohi (RAPD), Haber's syndrome, and Galli-Galli disease. A 25-year-old male presented with asymptomatic dark-colored lesions on his hands and feet with light-colored skin lesions involving the trunk since three years. Dermatological examination revealed hyperpigmented macules in a reticulate pattern involving the dorsa of the hands and feet, front and sides of the neck, axillae, periorbital region, and groin. Multiple pits were present over both palms, with breaks in dermatoglyphics. He also had multiple nonacne facial scars predominantly on the nose and malar areas. The patient had overlapping features of RAPK and DDD. In addition, he also had hypopigmented macules and acneiform facial scars. Such an overlap of features of reticulate pigmentation has not been previously reported in the literature.
Dowling Degos disease; Haber's syndrome; reticulate acropigmentation of Dohi; reticulate acropigmentation of Kitamura; reticulate pigmentation
A two-year-old girl child was admitted with complaints of diarrhoea of one week duration in the paediatric ward. She was referred to the skin OPD for gradually progressive skin rashes on both lower limbs noticed since two days. Dermatological examination revealed finding of livedo reticularis. Dietary history revealed maize forming a significant portion of the child's diet since the age of nine months. The child was treated with a course of Niacin in the form of Nicotinamide 50 mg twice a day for 4 weeks and the parents were advised not to give her maize in the diet. The skin lesions and diarrhoea regressed in duration of two weeks. This is probably the first time that a case of pellagra causing livedo is being reported, that too in a child.
Diarrhoea; livedo reticularis; niacin; pellagra
Some important clinical differences exist between human immunodeficiency virus (HIV)-seropositive and HIV-seronegative patients. Alterations in the cerebrospinal fluid (CSF) cytokines and matrix metalloproteinase have been noted in tuberculous meningitis. In HIV-infected patients, the immunopathogenesis is expected to be different.
Materials and Methods:
In this study, 64 patients of tuberculous meningitis (28 HIV seropositive and 36 seronegative) were included. The patients were followed up for six months. Cerebrospinal fluid (CSF) samples of tuberculous meningitis patients and 20 controls were subjected to tissue necrosis factor (TNF)-α, interleukin (IL)-1β, interferon (IFN)-γ, IL-10, matrix metalloproteinase (MMP)-2, and MMP-9 estimations. The levels were correlated with the patients’ baseline clinical characteristics, CSF parameters, neuroimaging findings, and the outcome. The outcome was assessed and modified with the Barthel index.
The CSF cytokines and MMP levels were significantly elevated in tuberculous meningitis when compared with the controls. There was no significant difference seen between HIV seropositive and seronegative tuberculous meningitis, except for the IL-1β level, which was significantly lower in the HIV-infected patients. The cytokine and MMP levels did not correlate with the baseline clinical characteristics, disease severity, cerebrospinal fluid characteristics, neuroimaging findings, and outcome.
In conclusion, HIV infection did not affect a majority of the CSF cytokines and MMP levels in tuberculous meningitis except for IL-1β level. None of the estimated inflammatory parameters correlated with the outcome.
Cytokines; human immunodeficiency virus; matrix metalloproteinases; tuberculous meningitis
A 40-year-old lady presented with history of multiple red raised painful lesions over her body of 10 days duration. Lesions spread from forearms to arms and back of trunk during the progress of the disease. Associated pain and burning sensation in the lesions was present while working in the sun. Mild to moderate grade fever, malaise, pain over large joints, decreased appetite, and redness of eyes was also present. There was no history of drug intake or other risk-factors. Dermatological examination revealed erythematous papules coalescing to form plaques with a pseudovesicular appearance over the extensor aspect of forearms and photo-exposed areas on the back of trunk. There was a sharp cut-off between the lesions and the photo-protected areas. Investigations revealed anemia, neutrophilic leukocytosis, raised erythrocyte sedimentation rate and positive C reactive protein. Skin biopsy showed characteristic features of Sweet's syndrome. No evidence for any secondary etiology was found. She responded to a tapering course of oral steroids and topical broad spectrum photo-protection. This case is a very rare instance of idiopathic Sweets syndrome occurring in a photo-distributed pattern.
Corticosteroids; neutrophils; photodistribution; Sweet's syndrome
Sorafenib and sunitinib are inhibitors of tumor angiogenesis have recently generated curiosity regarding its role in cutaneous toxicities, which has severely affected the daily activities resulting in interruption or dose modification of therapy in renal cell carcinoma and hepatocellular carcinomas. We discuss the pathophysiology, adverse cutaneous effects and their grading, potential high risk factors, role of gene polymorphism, critical period of hand-foot skin reaction development and their management.
Burgdorf reaction; hand-foot skin reaction; palmar-plantar erythrodysesthesia