Novel Autosomal Recessive Syndromic Variant of Hinman Syndrome

ISBN-13: 9786208116477 / Angielski / Miękka / 2025 / 64 str.

Aamir Al-Mosawi

Opis

Nonneurogenic neurogenic bladder, or Hinman syndrome, is traditionally considered a functional voiding disorder in children without neurological or anatomical abnormalities. While often acquired, recent data suggest possible congenital or familial forms. This book describes a rare familial occurrence of nonneurogenic neurogenic bladder dysfunction in three sisters from Iraq, born to consanguineous parents. One sister developed chronic renal insufficiency, while the youngest exhibited facial dysmorphic features, yet all retained normal cognitive abilities. Oral alfuzosin was successfully used in all three cases, reducing the need for catheterization and preserving renal function. The familial pattern, associated dysmorphology, and positive pharmacologic response strongly suggest a novel autosomal recessive Hinman-like syndrome. These findings challenge the traditional view of Hinman syndrome as a solely acquired condition and underscore the need for genetic evaluation and early intervention in similar presentations.