Radheshyam Purkait

Overlap of Sturge-Weber syndrome and Klippel-Trenaunay syndrome

Sturge–Weber syndrome is a rare sporadic condition of mesodermal phakomatosis, characterized by purple-colored flat cutaneous cranial (face) hemangiomas (most commonly along the trigeminal nerve), glaucoma and vascular lesions in the ipsilateral brain and meninges. Klippel–Trenaunay syndrome is also an uncommon mesodermal phakomatosis characterized by a triad of cutaneous and visceral hemangiomas, venous varicosities and soft tissue or bone hypertrophy. Sturge–Weber syndrome in combination with Klippel–Trenaunay syndrome is unusual. Because of the rarity, we report here a 3-year-old boy who presented with overlapping features of both the syndromes.

Neurocutaneous syndrome: a prospective study.

Background: Neurocutaneous syndromes (NCS) are a group of genetic disorders that produce a variety of developmental abnormalities of the skin along with an increased risk of neurological complications. Cutaneous manifestations usually appear early in life and progress with time, but neurological features generally present at a later age. There is a paucity of data regarding the evolution of skin lesions and their correlation with the central nervous system involvement in children. Aim: The primary objective was to track the course of skin lesions in various forms of NCS in the pediatric age group. Our secondary aim was to assess whether there was any predictive value of the lesions in relation to the neurological manifestations. Materials and Methods: This prospective longitudinal study was conducted at a tertiary care pediatric dermatology referral clinic of the Institute of Child Health, Kolkata, West Bengal. Children between the age group 0 and 12 years were included in the study on the basis of standard diagnostic criteria for different NCS, during the period from March, 2000 to February, 2004, and each of the enrolled cases were followed up for a duration of six years. Results: The study population comprised of 67 children (35 boys, 32 girls).The mean age of presentation was 33.8±27.8 months (range 10 days to 111 months). The various forms of NCS observed was neurofibromatosis 1(NF1) (n=33), tuberous sclerosis complex (TSC) (n=23), Sturge Weber syndrome (n=6), ataxia telangiectasia (n=2), PHACE syndrome (n=1), incontinentia pigmenti (n=1), and hypomelanosis of Ito (n=1). The presentations were varied, ranging from predominantly cutaneous to primarily neurological, depending on the disease entity and age group concerned. There was a significant increase in the number of café au lait macules (CALMs) with time (P=0.0002) in NF1, unlike that of hypopigmented macules of TSC (P=0.15). Statistically, no relation was documented between the evolution of skin lesions and neurological manifestations in the major groups. Conclusion: As NCS is not an uncommon disease in children, it is always necessary to find out the subtle neurological signs, whenever we observe any case with cutaneous markers suggestive of NCS. In addition, it is a must to do a detailed dermatological examination in a child with central nervous system involvement, in the pediatric population. However, the neurological course cannot be predicted from skin lesions.

Massive pericardial effusion as the only manifestation of primary hypothyroidism.

Small pericardial effusion (PE) is not an infrequent manifestation in primary hypothyroidism. But massive PE with or without cardiac tamponade is rare and often associated with severe form of the disease. Here we report an eight-year-old boy who was admitted with massive PE that required repeated pericardiocentesis. Detailed examinations failed to identify the etiology initially. Five months later, child was readmitted with massive PE with impending cardiac tamponade. Primary hypothyroidism was diagnosed based on the clinical and laboratory finding and was thought to be the underlying etiology of previously encountered undiagnosed massive PE. Beside pericardiocentesis, child was treated with thyroid hormone replacement. Condition gradually improved without further recurrence of PE till date. Therefore, irrespective of the presence of clinical signs, primary hypothyroidism should be suspected in every patient presenting with massive PE to prevent recurrence as well as its serious complications like cardiac tamponade.

Nasal Hemophilic Pseudotumor: Favorable Response to Radiotherapy.

Hemophilic pseudotumors are rare but dangerous complications of Hemophilia. We hereby report a 3-year-old boy with Hemophilia B, presenting with nasal pseudotumor, showing favorable response to radiotherapy after unsuccessful treatment with factor IX replacement therapy. The diagnosis and treatment of this rare condition is also reviewed.

Association of Joubert syndrome and Hirschsprung disease.

BackgroundAssociation between Joubert Syndrome and Hirschsprung disease is rare.Case characteristicsA 9-month-old girl having developmental delay and chronic constipation.ObservationMolar tooth sign on MRI brain and absence of ganglion cells in rectal biopsy specimen.OutcomeChild underwent surgical repair for Hirschsprung disease.MessageAssociation of these two rare entities could be explained by ciliopathy.

Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case.

Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Our patient had a broad forehead, arched eyebrows, left-sided squint, hypertelorism, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and cerebellar hypoplasia with molar tooth sign consistent with the diagnosis of Varadi Papp syndrome.

Umbilical myiasis associated with Staphylococcus aureus sepsis in a neonate

Myiasis is an infection of live mammalian tissue by the larvae of dipteran flies and commonly found in the tropics and subtropics. It usually infects domestic and wild animals, but sometimes also affects human. Umbilical cord myiasis in the neonatal period associated with sepsis is a rare occurrence with few reported cases in the literature. In this article, authors report a 7-day-old neonate from a rural area presented with neonatal sepsis due to umbilical myiasis caused by fly larval form of blow fly (Chrysomya megacephala).

Comparison between Ferrous Ascorbate and Colloidal Iron in the Treatment of Iron Deficiency Anemia in Children from Kolkata, India

Aim: To compare the efficacy and safety of ferrous ascorbate and colloidal iron in children with iron deficiency anemia. Study Design: An open, randomized, comparative, parallel-group study.

Unusual associations of necrotizing fascitis: A case series report from a tertiary care hospital

Necrotizing fasciitis is a rapidly progressive, potentially fatal infection of the superficial fascia and subcutaneous tissue. It is rare in children. We report three such cases in which differentiating from common soft tissue infection was challenging. High index of suspicion is important as management initiated at an early stage is rewarding.

Intracranial hemorrhage following intrathecal methotrexate therapy for acute lymphoblastic leukaemia

BackgroundAcute toxic leukoencephalopathy following intrathecal methotrexate administration is well documented but intracranial haemorrhage is extremely rare.Case CharacteristicsA 2½-year-old girl with acute lymphoblastic leukemia developed sudden onset neurological deterioration following intrathecal methotrexate.ObservationsComputed tomography scan of brain demonstrated intraventricular and subarachnoid hemorrhage.OutcomeChild improved gradually on conservative management. Follow-up neuroimaging showed resolution of hemorrhage.MessageIntracranial haemorrhage is a rare but serious complication of intrathecal methotrexate.