Kaustav Nayek

Nephritic syndrome following multiple bee stings: a late hypersensitivity reaction

Abstract Most hypersensitivity reactions to insect stings are immediate, ranging from transient local reactions of little medical consequence to fatal anaphylaxis. Rarely, some patients have delayed reactions after a period of apparent normality which manifest as systemic features which can be life-threatening. A 3-year-old boy was attacked by a swarm of bees, estimated to be about 200 in number. There was an immediate cutaneous reaction which was treated at a local hospital. After 9 days, he presented with oliguria, dark-coloured urine, pedal oedema, hypertension and acute kidney injury (AKI). He was managed conservatively with fluid restriction, control of blood pressure and peritoneal dialysis, and renal function returned to normal gradually over the following 9 days. The delayed-onset AKI and other laboratory abnormalities suggested a immune-mediated type III hypersensitivity reaction leading to renal insufficiency. After improvement of initial hypersensitivity reactions, patients with bee stings should be followed up in order to detect any late-onset complications which might be life-threatening.

Meier-Gorlin syndrome with ventriculomegaly and hypoplastic corpus callosum: a rarely reported congenital malformation

Meier-Gorlin syndrome (MGS) or ear-patella-short stature syndrome (MIM 224690) is a rarely reported autosomal recessive disorder having characteristic triad of microtia, short stature and aplastic or hypoplastic patella. Only 67 cases are reported. We are reporting a newborn female baby with typical features of MGS along with some other features never described before, ventriculomegaly and hypoplastic corpus callosum. We did x-rays of whole body (infantogram) and MRI of brain for microcephaly. Ultrasonography of both knees showed absence of patellae and brain MRI showed ventriculomegaly and hypoplastic corpus callosum. To our best knowledge this is the second case report of MGS in India; the first reported a MGS associated with papilledema. In previously reported cases, there was no statement regarding agenesis of corpus callosum.

Autosomal recessive split-hand/split-foot malformation

Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot. It is also known as ectrodactyly or lobster claw hand. Although SHFM is mostly autosomal dominant, there are isolated case reports which indicate that it can be autosomal recessive. We are reporting a case of ectrodactyly with autosomal recessive mode of inheritance.

Complete Tibial Aplasia with Preaxial Polydactyly: A Kindred of Affected Individuals in three Generations

Abstract Tibial aplasia with polydactyly of hands and feet is a rare congenital anomaly, affecting both sexes with reported prevalence between 5 and 19 per 10000 live births (1) . The molecular basis of this defect is unknown, and autosomal dominant mode of inheritance (2,3,4,5,6) with variable expressivity is usually postulated. The first case, more or less similar to the aforesaid phenotype, was reported in 1915 by Werner (7) in a 20 yrs old woman in her 6 th months of pregnancy; and in 1918 Davidson (8) reported the second case, in a two yrs old baby. This type of congenital anomaly, reported by Werner and Davidson, is commonly referred to as Werners syndrome (7) , or, Werner mesomelic syndrome (7) , or, Eaton-McKusick syndrome (9) . The first familial case of Werner type was reported by Reber (1968) (10) , and second familial case was reported by Eaton and McKusick(1969) (9) . Latter similar cases with familial inheritance were reported by various authors (2,4,5) ; which suggests the variable expressivity and autosomal dominant mode of inheritance of this sort of congenital malformations. Gene responsible for preaxial polydactyly associated with tibial dysplasia/ aplasia, has been localized to chrosome 7q36 (1) . Very few cases are reported in India, and even fewer from our region. Here we report a case of a newborn on day-1, admitted in nursery with polydactyly of both upper and lower limbs, along with unilateral limb shortening and bilateral congenital talipes-equinovarus(CTEV); and also similar limb defects in the same family members spanning three generations.