Abstract
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion condition. The WHS core
phenotype includes developmental delays, intellectual disabilities, seizures, and
distinctive facial features. Various other comorbidities have also been reported,
such as hearing loss, heart defects, as well as eye problems and kidney problems.
In this report, we present a case of WHS accompanied by hyperparathyroidism and hypercalcemia,
which has not been previously reported. A girl was born at 37 weeks of gestation by
vaginal delivery. She was small for the gestational age (2,045 g) and admitted to
neonatal intensive care unit. She had typical WHS facial features and was found to
have bilateral small kidneys associated with transient metabolic acidosis and renal
insufficiency. She had right-sided sensorineural hearing loss, a small atrial septal
defect, and colpocephaly and hypoplasia of corpus callosum. She had a single seizure
which was well controlled with an oral antiepileptic medication. Cytogenetic studies
demonstrated a large terminal chromosome 4p deletion (21.4 Mb) and 4p duplication
(2.1 Mb) adjacent to the deletion. A unique finding in this patient is her consistently
elevated levels of parathyroid hormone and serum calcium, suggesting hyperparathyroidism.
We present this rare case along with a review of the literature and hope to draw an
attention to a potential relationship between WHS and hyperparathyroidism.
Keywords
Wolf-Hirschhorn syndrome - 4p deletion - 4p duplication - hyperparathyroidism
