title: Clinical spectrum and diagnostic difficulties of infantile ponto-cerebellar hypoplasia type 1.
abstract: We present the clinical and histopathological features and the diagnostic difficulties encountered in five children affected by a motor neuron disorder other than spinal muscular atrophy. Investigations performed suggested the diagnosis of ponto-cerebellar hypoplasia type 1 (PCH-1). Severe respiratory difficulty was present at birth in two of these children; hypotonia, arthrogryposis, microcephaly and nystagmus were present in all. Early and progressive bulbar involvement with swallowing difficulties and stridor was also a common feature in these infants. Severe cognitive delay was invariably present. Brain magnetic resonance imaging showed ponto-cerebellar hypoplasia in four children while striking atrophy of the cerebellar vermis and cerebellar hemispheres were present in the fifth child. Electrophysiological and pathological investigations of proximal muscles performed at presentation in all these children were not conclusive, while the post-mortem studies, or the study of distal muscles during life, showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that ponto-cerebellar hypoplasia type 1 is a different entity from typical proximal spinal muscular atrophy.
authors.affiliation: Department of Paediatrics & Neonatal Medicine, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: F
authors.initials: F
authors.lastname: Goodwin
authors.forename: C
authors.initials: C
authors.lastname: Sewry
authors.forename: P
authors.initials: P
authors.lastname: Cox
authors.forename: F
authors.initials: F
authors.lastname: Cowan
authors.forename: E
authors.initials: E
authors.lastname: Airaksinen
authors.forename: S
authors.initials: S
authors.lastname: Patel
authors.forename: J
authors.initials: J
authors.lastname: Ignatius
authors.forename: V
authors.initials: V
authors.lastname: Dubowitz
mesh_terms: D000015:Abnormalities, Multiple; D001176:Arthrogryposis / Q000175:diagnosis; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D017362:Cyclic AMP Response Element-Binding Protein; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D011149:Pons / Q000002:abnormalities* / Q000473:pathology; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000235:genetics
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins