Hair Shaft Examination in a Child With Global Developmental Delay

被引：0

作者：

Elwadhi, Aman ^{[1
]}

Panda, Prateek K. ^{[1
]}

Kc, Neha ^{[1
]}

Pradhan, Amit ^{[1
]}

Gupta, Diksha ^{[1
]}

Sharawat, Indar K. ^{[1
]}

机构：

[1] All India Inst Med Sci, Dept Pediat, Pediat Neurol Div, Rishikesh, India

来源：

NEUROLOGY | 2023年 / 101卷 / 20期

关键词：

D O I：

10.1212/WNL.0000000000207802

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 6-month-old male infant born to nonconsanguineous parents presented with delayed attainment of milestones and lightly colored hairs. Examination revealed a developmental quotient of 50%, microcephaly (35 cm, <-3 Z score), and hypopigmented skin and hair (Figure, A). His elder male sibling also had hypopigmented hairs. Hair microscopy showed large, irregular clumps of melanin (Figure, B). Next-generation sequencing revealed a pathogenic homozygous nonsense variation in the RAB27A gene (c.550C>T, exon 6), confirming the diagnosis of Griscelli syndrome (GS).

引用

页码：916 / 917

页数：2

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