Clinical neuroimaging features and outcome in molybdenum cofactor deficiency.

Molybdenum cofactor deficiency predominantly affects the central nervous system. There are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features. We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency observed in our institution over 10 years. Two modes of presentation were identified: early (classical) onset with predominantly epileptic encephalopathy in 6 neonates, and late (atypical) with global developmental impairment in 2 children. Children in both groups had varying degrees of motor, language, and visual impairment. There were no deaths. Brain MRI demonstrated cerebral infarction in all but one child in the atypical group. Distinctive features were best observed on early brain MRI: acute symmetrical involvement of the globus pallidi and subthalamic regions coexisting with older cerebral hemisphere infarction, chronic lesions suggestive of a prenatal insult, pontocerebellar hypoplasia with retrocerebellar cyst, and presence of a distinctive band at the cortical/subcortical white matter. Sequential imaging revealed progressive pontine atrophy and enlargement of retrocerebellar cyst. The brain MRI of one child with atypical presentation (verbal dyspraxia, lens dislocation) showed symmetrical cerebellar deep nuclei signal abnormality without cerebral infarction. Imaging pattern on early brain MRI (<1 week) may prompt the diagnosis, potentially allowing early treatment and disease modifications.

Foetal brain imaging: ultrasound or MRI. A comparison between magnetic resonance imaging and a dedicated multidisciplinary neurosonographic opinion.

OBJECTIVES: (i) To compare original foetal brain ultrasound findings with a multidisciplinary expert opinion; (ii) to compare the multidisciplinary expert ultrasound opinion with foetal magnetic resonance imaging (MRI) findings and (iii) to determine in which circumstances foetal MRI gives additional information, and in how many cases management is changed by having information from MRI. STUDY DESIGN: Ultrasound scans of 51 consecutive foetuses where foetal brain MR had been performed were retrospectively reviewed by a panel consisting of maternal-foetal-medicine (MFM) consultants, a geneticist, neonatologists and MFM subspecialty trainees. The original ultrasound opinion was compared with the multidisciplinary opinion, which was then compared with MRI findings. In the cases where MRI gave additional information, an assessment was made as to whether this changed management. RESULTS: The multidisciplinary ultrasound opinion differed from the original opinion in 9 of 51 (17%) cases. In 19 patients (37%), the MRI gave additional information to the original ultrasound, in 7 (13%) cases, management, and in 7 (13%) cases, counselling was altered by additional information gained from MRI. The multidisciplinary ultrasound and MRI diagnoses were similar in 36 cases (71%). CONCLUSION: Multidisciplinary review of an apparently abnormal foetal brain ultrasound can provide additional diagnostic information. When compared with this level of ultrasound expertise, MRI gave additional information in 29% of cases, but only resulted in change in management in about 13%.