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Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: A unique case of γ‐hydroxybutyric aciduria and Williams syndrome
Author(s) -
Knerr Ina,
Michael Gibson K.,
Ganesh Jaya,
Bennett Michael J.,
Salomons Gajja S.,
Jakobs Cornelis,
Myers Scott M.
Publication year - 2007
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30553
Subject(s) - failure to thrive , hyperammonemia , ketonuria , medicine , metabolic acidosis , metabolic disorder , hypoglycemia , hypotonia , pediatrics , endocrinology , diabetes mellitus
Metabolic work‐up, pursued in a 5‐month‐old female infant with hypersomnolence, failure to thrive, and global developmental delay, led to the identification of γ‐hydroxybutyric aciduria (GHB). Succinic semialdehyde dehydrogenase deficiency (SSADH deficiency) was confirmed enzymatically and molecularly. Characteristic dysmorphic facies, cardiovascular anomalies, and hypercalcemia led to clinical suspicion of Williams‐Beuren syndrome (WS), confirmed by cytogenetic studies. This rare occurrence of two unrelated genetic conditions highlights the importance of instituting comprehensive metabolic studies despite the presence of syndromic findings, even in the absence of other metabolic abnormalities that may be indicative of metabolic disease such as hyperammonemia, hypoglycemia, ketonuria, and metabolic acidosis. © 2007 Wiley‐Liss, Inc.