Leigh syndrome is a rare progressive neurodegenerative, mitochondrial disorder of childhood with only a few cases documented from India. The clinical presentation of Leigh syndrome is highly variable. However, in most cases it presents as a progressive neurological disease with motor and intellectual developmental delay and signs and symptoms of brain stem and/or basal ganglia involvement. Raised lactate levels in blood and/or cerebrospinal fluid is noted. It is the neuroimaging, mainly the Magnetic Resonance Imaging showing characteristic symmetrical necrotic lesions in the basal ganglia and/or brain stem that leads to the diagnosis. Here, we report a case of 7 months old female child presenting to us with status epilepticus, delayed developmental milestones and regression of the achieved milestones suspected to be a case of neurodegenerative disorder, which on MRI was diagnosed as Leigh syndrome.
We report a case of chondroid syringoma (CS) in a 44-year-old male. He presented with a firm asymptomatic nodule in his left upper lip of 2-year duration. The initial clue to the diagnosis was made on fine needle aspiration cytology (FNAC), and a final diagnosis was based on histopathological examination. The case highlights the importance of FNAC in providing clues to the diagnosis of suspected cases of chondroid syringoma before performing large excisions and repair, which would require more skill and time. We have also reviewed the cytological findings of all the cases of benign CS reported until the current date.
Confluent and reticulated papillomatosis of Carteaud and Gougerot is a keratinization disorder with an infective aetiology. Patients present with hyperpigmented papules on the upper trunk and axillae that coalesce centrally and demonstrate reticulation peripherally. Diagnosis is based on clinical findings, characteristic histopathologic changes and response to therapy. We report a case of a young Nepali male who presented with gradual onset of asymptomatic raised dark brown lesions on his neck, trunk and axillae over the course of eight years. The condition was previously misdiagnosed as pityriasis versicolor and had received oral and topical antifungals. The diagnosis was revised to confluent and reticulated papillomatosis based on clinical and histopathological examination. He was subsequently started on oral minocycline 50 mg twice daily and nightly application of topical tretinoin 0.05% gel. There was complete resolution of all his lesions except for residual hyperpigmentation at the end of two months of therapy. There has been no relapse six months from the end of therapy. This is to our knowledge, the first case of confluent and reticulated papillomatosis reported from Nepal. Oral minocycline and topical tretinoin should be considered first line in the treatment of confluent and reticulated papillomatosis.
IntroductionCongenital melanocytic nevi are among the several known risk factors for the development of melanoma. Neurocutaneous melanosis is a rare, congenital, non-hereditary disorder characterized by the presence of multiple and/or giant congenital melanocytic nevi. It is a rare condition, with fewer than 200 cases reported in the literature. Its association with tuberous sclerosis complex, a form of the neurocutaneous syndrome, is an unusual finding which, to the best of our knowledge, has not been documented in the English literature so far. Herein we present the first case documenting such an association in a 16-year-old post-pubertal Indian girl.Case presentationIn this report, we describe the case of a 16-year-old Indian girl who presented to our hospital with swelling on the scalp which had progressed from the hairline to just above the left brow, causing mechanical ptosis. She was born with a black-pigmented triangular patch covered with hair over the scalp which had increased in size over a period of eight years after birth. An X-ray of her skull and ultrasonography revealed soft tissue swelling in the left temporofrontoparietal region. Magnetic resonance imaging of her brain showed the presence of 8.99 cm × 2.26 cm abnormal signal intensity involving the scalp, a few small tubers with cortical dysplasia in the left frontoparietal region with asymmetric dilatation, and the presence of calcified subependymal nodules within the left lateral ventricle. These findings were suggestive of tuberous sclerosis. A histopathological examination of the swelling was suggestive of congenital melanocytic nevi. The patient underwent surgery. Excision of the tumor with primary skin grafting was done, with the graft being taken from the medial aspect of the right thigh.ConclusionThis case warrants further research to provide concrete evidence of an association of neurocutaneous melanoma with tuberous sclerosis complex. Research should be conducted to prove whether this is an unusual association or a new syndrome. Also, similar cases in other parts of the globe should be documented, as they would provide substantial support for such an association.
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