title: Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy.
abstract: Many neurodegenerative diseases can be misdiagnosed as cerebral palsy. The correct diagnosis is reached when the condition recurs in families or when there are specific clinical signs. The clinical and imaging features of 3 children, from 2 unrelated families, presenting with global developmental delay and dystonia are described, in whom the presence of cyanosis and methemoglobinemia confirmed the diagnosis of recessive hereditary methemoglobinemia type 2. Magnetic resonance imaging showed significant cerebellar atrophy in 2 of the 3 babies. In dark-skinned children, this condition is underdiagnosed, as mild cyanosis is difficult to detect. Screening for methemoglobinemia in children with dystonia, microcephaly, and progressive cerebellar atrophy can be helpful in identifying more cases. As there is no curative treatment for this autosomal recessive condition, the exact diagnosis offers the best chance for prenatal screening, by detecting deficient NADH--cytochrome b5 reductase enzyme activity or by identifying the specific mutation in cultured amniotic fluid cells.
authors.affiliation: Department of Pediatric Neurology, Govt Medical College, Thiruvananthapuram, Kerala, India vijaykalpana10@gmail.com.
authors.forename: Kalpana
authors.initials: K
authors.lastname: Devadathan
authors.affiliation: Department of Pediatric Neurology, Govt Medical College, Thiruvananthapuram, Kerala, India.
authors.forename: Mini
authors.initials: M
authors.lastname: Sreedharan
authors.affiliation: Department of Pediatrics, Govt Medical College, Thiruvananthapuram, Kerala, India.
authors.forename: Sanuja
authors.initials: S
authors.lastname: Sarasam
authors.affiliation: National Institute of Immunohematology, K. E. M. Hospital campus, Parel, Mumbai, India.
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
authors.affiliation: Department of Pediatric Neurology, Govt Medical College, Thiruvananthapuram, Kerala, India.
authors.forename: P A Mohammed
authors.initials: PA
authors.lastname: Kunju
mesh_terms: D001921:Brain / Q000473:pathology; D002547:Cerebral Palsy / Q000175:diagnosis; D002675:Child, Preschool; D003490:Cyanosis / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology; D042966:Cytochrome-B(5) Reductase / Q000097:blood; D003937:Diagnosis, Differential; D020821:Dystonic Disorders / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008708:Methemoglobinemia / Q000175:diagnosis* / Q000473:pathology* / Q000503:physiopathology; D008831:Microcephaly / Q000175:diagnosis / Q000473:pathology* / Q000503:physiopathology
chemical_list: D042966:Cytochrome-B(5) Reductase
keywords: NADH - cytochrome b5 reductase; cerebellar atrophy; recessive congenital methemoglobinemia type 2