Wolf-Hirschhorn syndrome with improvement of renal function.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome (WHS ) is a chromosomal disorder characterized by partial deletion of the short arm of chromosome 4 . We describe a girl with a de novo unbalanced traslocation t (4 ;7 )(p 16 .2 ;p 22 ), associated with a mild version of a classical WHS phenotype . She did not present major urinary tract abnormalities but had parenchymal hyperechogenicity at renal ultrasound at the birth with normal renal scintigraphy . She had also a reduction of GFR with elevated levels of blood urea nitrogen and serum potassium until the age of 6 months . We followed the patient with periodic clinical examination and laboratory and radiological investigations and observed at the age of 5 years a normal renal ultrasound without parenchymal hyperechogenicity .

Diseases
Validation

Diseases presenting "elevated levels" symptom

22q11.2 deletion syndrome

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

aniridia

cadasil

canavan disease

congenital adrenal hyperplasia

epidermolysis bullosa simplex

erythropoietic protoporphyria

esophageal carcinoma

fabry disease

familial hypocalciuric hypercalcemia

hereditary cerebral hemorrhage with amyloidosis

inclusion body myositis

kabuki syndrome

omenn syndrome

phenylketonuria

primary effusion lymphoma

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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