Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum / 소아과

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.

association between weight for gestational age and kidney volume: a study in newborns in India

The association of low birth weight [LBW] with adult onset diseases like hypertension is suggested to be partially mediated by a low number of nephrons at birth. Studies have established a relation between LBW and renal volume as the latter is a surrogate marker of total nephron number. Most such studies have considered birth weight or gestational age as separate independent predictors, without taking into consideration the baby's weight with respect to its gestational age. This study aims to investigate the influence of weight for gestational age on kidney volume in newborns. Consecutive newborns delivered in the department of neonatology in a tertiary care medical college and hospital, were included in a cross-sectional study. The subjects were classified as appropriate for gestational age [AGA] and small for gestational age [SGA] as per Lubchenco's charts of weight for gestational age [WGA]. Bilateral kidney dimensions were measured by a single observer and combined kidney volumes were calculated and compared between the groups. Four hundred and seventeen newborns [SGA 159; AGA 258] were included. The mean combined kidney volume [CKV] was significantly lower among SGA newborns [13.85 +/- 4.02 cm[3]] compared to that of AGA [16.88 +/- 4.53 cm[3]] [P<.001]. Univariable and multivariable analyses were done for assessing the effect of demographic, anthropometric and maternal parameters on CKV. WGA, crown heel length, gestational age and postnatal age [hours of life] were independent predictors of mean CKV. An SGA newborn was expected to have a mean CKV 1.57 cm less [95% CI -2.49 cm to -0.65 cm] than that of its AGA counterpart. Considering the future implications of being SGA and having low kidney volumes at birth, it is essential to have an objective depiction of the relationship between these two vital parameters. This study from the Indian subcontinent brings forth such an association