title: Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?
abstract: Syndromes with smooth muscle dysmotility are uncommon, and may be related either to smooth muscle myopathy, or to neuropathy. In most instances, neuropathic visceral dysmotility is an isolated finding leading to chronic intestinal pseudo-obstruction syndrome (CIPO). We report here on two sibs, born to consanguineous parents, with neuropathic visceral dysmotility and CNS anomalies. They share facial dysmorphia, neurogenic megacystis, intracerebral calcifications, and developmental delay. The elder one, a girl, has microcephaly and multicystic kidneys, and her brother has a more extensive neuropathic visceral disorder leading clinically to CIPO. CIPO associated with megacystis is relatively frequent but is rarely associated with mental retardation. The cases reported in the literature are different from those described here, clinically and histologically. A recessively inherited form of CIPO associated with widespread intra-cerebral calcifications, malabsorption is known as Cockel syndrome. Severity of Cockel syndrome, absence of urinary tract involvement and neuropathologic discrepancies allow distinction with the disorder reported here. In conclusion, the two siblings described here have facial dysmorphia, vesical and (in one of them) intestinal neurogenic dysmotility, intracerebral calcifications and developmental delay that could represent a specific, recessively inherited form of CIPO.
authors.affiliation: Clinical Genetic Unit, Genetic Department, Hôpital Robert-Debré, 48, boulevard Sérurier, 75019 Paris, France.
authors.forename: Alice
authors.initials: A
authors.lastname: Hadchouel
authors.forename: Marc
authors.initials: M
authors.lastname: Bellaiche
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Gérard
authors.initials: G
authors.lastname: Darnaud
authors.forename: Alaa
authors.initials: A
authors.lastname: El Ghoneimi
authors.forename: Latifa
authors.initials: L
authors.lastname: Ferkdadji
authors.forename: Monique
authors.initials: M
authors.lastname: Elmaleh
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
mesh_terms: D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics*; D020863:Central Nervous System Cysts / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D005260:Female; D005769:Gastrointestinal Motility; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed