Pai syndrome: a further report of a case with bifid nose, lipoma, and agenesis of the corpus callosum.

INTRODUCTION: Pai syndrome is a rare genetic disorder mainly characterized by the association of complete median cleft of palate and upper lip, midline facial cutaneous, and mid-anterior alveolar process polyps, duplicated maxillary median frenulum, bifid nose, and midline lipoma(s) of the central nervous system, in particular, the corpus callosum. The incidence of this syndrome is much higher in males than in females. The etiology remains unknown: The syndrome may be associated with autosomal-dominant inheritance, but X-linked recessive inheritance could not be excluded. DISCUSSION: A de novo apparently balanced reciprocal traslocation, 46,X,t(X;16) has been described in a 13-year-old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. We describe a new case that presents the main clinical features associated with bifid nose, lipoma, and partial agenesis of corpus callosum.

Holoprosencephaly with neurogenic hypernatremia: a new case.

BACKGROUND: Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and mid-face in humans. It is a disorder of neural induction in which a genetic programming defect results in noncleavage of the forebrain in the sagittal plane and variable hypoplasia of paramedian structures. It occurs in 5-12/10,000 live births. Clinically, there is a nearly continuous spectrum of malformations consistent with HPE. Endocrinopathies, such as diabetes insipidus, hypothyroidism, hypocorticism, and growth hormone deficiency, are frequently associated with HPE. Seizures may occur. CASE REPORT: We report a new case of semilobar-HPE complicated by neurogenic hypernatremia and no signs of dehydration in a child with microcephaly, spasticity, mental and psychomotor retardation, frontal bones hypoplasia, and mild facial dysmorphism.