Molybdenum cofactor deficiency: Review of 12 cases (MoCD and review)

Bayram, Erhan; Topçu, Yasemin; Karakaya, Pakize; Yış, Uluç; Çakmakçı, Handan; Ichida, Kimiyoshi; Kurul, Semra Hız

doi:10.1016/j.ejpn.2012.10.003

Cited by 50 publications

(40 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Agenesis or hypoplasia of the corpus callosum was described in 5 (type A: 1; type unknown: 4) of 12 cases of MoCoD in Turkey 18 as well as in infants with ISOD 19 and was also seen in both infants in this report. Dysgenesis of the corpus callosum has a heterogeneous etiology and may be associated with metabolic disorders of organic acids, such as propionic acidemia or pyruvate dehydrogenase complex deficiency.…”

Section: Figurementioning

confidence: 59%

Early Features in Neuroimaging of Two Siblings With Molybdenum Cofactor Deficiency

et al. 2014

View full text Add to dashboard Cite

We report the features of neuroimaging within 24 hours after birth in 2 siblings with molybdenum cofactor deficiency. The first sibling was delivered by emergency cesarean section because of fetal distress and showed pedaling and crawling seizures soon after birth. Brain ultrasound revealed subcortical multicystic lesions in the frontal white matter, and brain MRI at 4 hours after birth showed restricted diffusion in the entire cortex, except for the area adjacent to the subcortical cysts. The second sibling was delivered by elective cesarean section. Cystic lesions were seen in the frontal white matter on ultrasound, and brain MRI showed low signal intensity on T1-weighted image and high signal intensity on T2-weighted image in bifrontal white matter within 24 hours after birth, at which time the infant sucked sluggishly. Clonic spasm appeared at 29 hours after birth. The corpus callosum could not be seen clearly on ultrasound or MRI in both infants. Cortical atrophy and white matter cystic lesions spread to the entire hemisphere and resulted in severe brain atrophy within ∼1 month in both infants. Subcortical multicystic lesions on ultrasound and a cortex with nonuniform, widespread, restricted diffusion on diffusion-weighted images are early features of neuroimaging in patients with molybdenum cofactor deficiency type A. Dr Higuchi instructed the doctors in charge of the 2 infants and drafted the initial manuscript; Drs Tamura and Higa were in charge of follow-up of the 2 infants at the outpatient clinic and reviewed and revised the manuscript; Dr Sugimoto was in charge of the first sibling in the NICU after admission soon after birth and reviewed and revised the manuscript; Dr Kioka analyzed the DNA obtained from the 2 patients and their family and reviewed and revised the manuscript; Dr Tsuno was in charge of the second sibling in the NICU after admission soon after birth and reviewed and revised the manuscript; Dr Yoshikawa instructed the doctors in charge of the 2 infants and reviewed and revised the manuscript; and all authors approved the final manuscript as submitted.www.pediatrics.org/cgi

show abstract

Section: Figurementioning

confidence: 59%

Early Features in Neuroimaging of Two Siblings With Molybdenum Cofactor Deficiency

et al. 2014

View full text Add to dashboard Cite

show abstract

“…6,5 Posterior fossa abnormalities include pontocerebellar atrophy and retrocerebellar cyst. 5 Isolated hyperintensities of globus pallidi and skeletal abnormalities are rare.…”

Section: E176mentioning

confidence: 99%

“…7 The majority of the affected individuals die of the illness within the first few days or weeks of life. 6 Late-onset, milder phenotype with survival into adult life and neurologically asymptomatic patients detected during sibling screening are also reported.…”

mentioning

confidence: 99%

“…Macrocephaly may occur exceptionally due to hydrocephalus. 1,6,5 Clinical phenotype is expanding with recognition of lens dislocation as forme fruste of neurologic manifestations, neonatal hyperekplexia with startle and flexor spasms leading to apnea without any electrographic seizure, and adult-onset progressive parkinsonism-dystonia syndrome. 7 The majority of the affected individuals die of the illness within the first few days or weeks of life.…”

mentioning

confidence: 99%

“…Feeding difficulty, failure to thrive, and screaming episodes are common. 6 Cortical damage, myopia, and lens dislocation contribute to impaired vision, which is universal. 5 Other uncommon features include renal stones, intermittent microscopic hematuria, skeletal abnormalities, laryngomalacia, autonomic dysfunction, and metabolic and lactic acidosis.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Child Neurology: Molybdenum cofactor deficiency

et al. 2015

View full text Add to dashboard Cite

Molybdenum cofactor deficiency (MoCD) is a rare inherited metabolic disorder characterized by neonatal onset intractable seizures, severe psychomotor retardation, dysmorphic facies, and dislocated ocular lenses.1 A characteristic biochemical profile permits early diagnosis. Although more than 100 genetically characterized patients have been reported, this number is discrepant with the actual prevalence as MoCD is often mistaken for hypoxic-ischemic encephalopathy (HIE) secondary to perinatal asphyxia. It is important to recognize MoCD to provide appropriate genetic counseling and prenatal diagnosis.2 Effective pharmacotherapies that overcome the primary biochemical defect are also in the pipeline. We present a child with biochemically and genetically confirmed MoCD and discuss the clinical, imaging, biochemical, and genetic profile of this disorder.CASE REPORT A 4-year-old boy from the south Indian state of Kerala presented with developmental delay and seizures. He was the only child of consanguineous parents (first cousins). He was born at term following an uneventful antenatal period with a birthweight of 3.25 kg, cried immediately at birth, and did not have features of birth asphyxia. He developed generalized seizures on the fifth day of life. The seizures remained refractory to multiple anticonvulsants at optimal dosages. He also developed episodes of intermittent sudden flexion of trunk and limbs once in 1-2 minutes. The frequency of these episodes was reduced with time and occurred in response to sound only. Since 6 months of age, he developed progressive stiffness with intermittent posturing of neck and trunk. There was no history of neurologic illness in the family.On examination, he was irritable and poorly nourished with intermittent stridor. He had microcephaly with head circumference of 46 cm, bilaterally dislocated lenses, and could not fix or track light. He had exaggerated startle to sound. There was severe spasticity, cervical dystonia, and opisthotonus. Investigations showed normal hemogram, renal and hepatic function tests, serum vitamin B 12 , folic acid, and biotidinase levels. Cytogenetic study showed normal male karyotype. Screening for amino-acidemias, organic acidemias, and disorders of fatty acid oxidation by tandem mass spectrometry drew negative results. Urine analysis for abnormal metabolites, glycosaminoglycans, total mucopolysaccharides, and organic acids was normal. Lactate (32.9 mg/dL; ref 4.5-20 mg/dL) and ammonia (67.7 mg/dL; ref 11-35 mg/dL) were mildly elevated. Mild laryngomalacia was detected on bronchoscopic examination. Brain MRI done at fourth month of life showed severe diffuse cerebral atrophy, areas of T2 shortening in bilateral basal ganglia suggestive of intracranial haemorrhage, and pontine hypoplasia with enlargement of the prepontine cistern ( figure, A-D). EEG showed recurrent multifocal epileptiform discharges.Serum homocysteine was markedly reduced (0.9 mmol/L; ref 4-12 mmol/L), and uric acid was undetectable. Examination of purine metabolites in urine showed the

show abstract