Leukocoria caused by intraocular heterotopic brain tissue.
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Brain↗
Biomedical subjects
Susan Blaser
Publications and source records attributed to Susan Blaser.
A neuroimaging approach to inborn errors of metabolism.
There are numerous neurodegenerative and neurometabolic disorders of childhood. Individually, however, they are quite rare. Some may be seen only once in a lifetime at a given medical center, even one devoted to the specialized care of children. This article presents the classic neuroimaging features of some of the more commonly seen entities and of some of the more recently described metabolic disorders.
Brain↗
A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.
We identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement of brainstem and spinal tracts. Proton magnetic resonance imaging showed increased lactate in the abnormal white matter. Clinically, the patients had slowly progressive pyramidal, cerebellar, and dorsal column dysfunction. The uniform, highly characteristic magnetic resonance imaging pattern and the similarities in clinical and magnetic resonance spectroscopy findings provide evidence for a new disease entity. Autosomal recessive inheritance is likely.
Adolescent↗
Mycoplasma pneumoniae ecephalitis.
Mycoplasma pneumoniae causes between 5 and 10 percent of acute childhood encephalitis in Europe and North America. Encephalitis due to this organism may be caused by direct infection of the brain, immune-mediated brain injury or thromboembolic phenomenon. The prognosis is guarded with 20 to 60 percent suffering neurologic sequelae. The diagnosis of M. pneumoniae encephalitis should be based on strong evidence of M. pneumoniae infection that includes detection of the organism in culture or using molecular detection techniques in addition to serology and exclusion of other potential etiologies. Antibiotic therapy should be considered for all children with suspected M. pneumoniae encephalitis; antibiotics with good central nervous system (CNS) penetration such as ciprofloxacin, doxycycline, chloramphenicol or azithromycin are appropriate under most circumstances. Immune modulating therapies, such as corticosteroids, intravenous immune globulin or plasmapharesis, should be considered in those with immune-mediated syndromes such as acute disseminated encephalomyelitis.
Anti-Bacterial Agents↗
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis.
Pontocerebellar hypoplasia type 1 is a rare disease characterized by pontocerebellar hypoplasia and anterior horn cell degeneration. The oldest reported child died at the age of 26 months. Two siblings were diagnosed with pontocerebellar hypoplasia type 1 after the death of the second sibling at 40 months of age from respiratory failure and the unexpected finding of anterior horn cell degeneration on her autopsy. The older sibling was a boy who was labeled as having cerebral palsy. He died at 14 months of age from pneumonia following a clinical course similar to his sister's, who was born 5 years after his death. Both siblings had significant global developmental delay with axial and peripheral hypotonia initially. Peripheral hypertonia with brisk reflexes developed later but were absent prior to death. Extensive investigations in the second sibling ruled out known metabolic (including congenital disorders of glycosylation) and mitochondrial diseases using skin fibroblast cultures and enzyme analysis. Genetic testing for Friedreich's ataxia; neuropathy, ataxia, and retinitis pigmentosa (NARP); spinal muscular atrophy; and spinocerebellar ataxia type 1, 2, 3, 6, 7, and 8 gene abnormalities was negative. The elecroretinogram showed a previously unreported finding of abnormal and progressive rod/cone response. Our cases provide clinical and previously unreported electroretinographic evidence for neurodegeneration in pontocerebellar hypoplasia type 1 and call for the expansion of the disease phenotype.
Atrophy↗
Basilar artery duplication associated with pituitary duplication: a new finding.
Pituitary duplication is a rare malformation, reported previously in approximately 18 patients. It is usually unsuspected before imaging, although it occurs most commonly in association with complicated midline and skull base anomalies. It is easily shown by MR imaging. Five new cases of pituitary duplication were diagnosed by using MR imaging studies reviewed at the Hospital for Sick Children. Among the many associated midline abnormalities, partial basilar artery duplication is a previously undescribed finding that we observed in all our cases. Cases of basilar artery duplication or fenestration are associated with altered flow dynamics, leading to a higher incidence of aneurysms. Periodic surveillance for this potential complication may be warranted.
Basilar Artery↗
Severe cleidocranial dysplasia can mimic hypophosphatasia.
UNLABELLED: Cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene. It is characterised by macrocephaly with persistently open sutures, absent or hypoplastic clavicles, dental anomalies, and delayed ossification of the pubic bones. A few patients have been reported with recurrent fractures or osteoporosis but these are not considered features of the disease. We report a patient with classical findings of cleidocranial dysplasia: markedly hypoplastic clavicles, delayed ossification of the pubic rami, multiple pseudoepiphyses of the metacarpals, and dental anomalies including delayed eruption of permanent dentition and multiple supernumerary teeth. The patient also had radiographic and biochemical features of hypophosphatasia (OMIM 241500, 146300) and was initially diagnosed with this condition. Serum alkaline phosphatase activity has been consistently reduced and specific enzyme substrates, phosphoethanolamine and pyridoxal-5'-phosphate, have been elevated. However, no mutations were found on direct sequencing of the tissue-nonspecific alkaline phosphatase ( TNSALP) gene using a protocol that detects up to 94% of all mutations causing hypophosphatasia. CONCLUSION: We propose that a subset of patients with cleidocranial dysplasia have features of secondary hypophosphatasia due to decreased expression of the tissue-nonspecific alkaline phosphatase gene.
Alkaline Phosphatase↗
Clinical images: Epidural lipomatosis in a 14-year-old boy with systemic lupus erythematosus.
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Adolescent↗
Predilection of retinoblastoma metastases for the mandible.
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Child, Preschool↗
Prenatal US and MR imaging findings of lissencephaly: review of fetal cerebral sulcal development.
The cerebral cortex develops in three overlapping stages: cell proliferation, neuronal migration, and cortical organization. Abnormal neuronal migration may result in lissencephaly, which is characterized by either the absence (agyria) or the paucity (pachygyria) of cerebral convolutions. The two main clinicopathologic types of lissencephaly may be differentiated according to their prenatal imaging features. Other cranial and extracranial abnormalities also may occur in association with lissencephaly. The prognosis is often poor, but prenatal diagnosis allows appropriate counseling and optimization of obstetric management. Familiarity with the normal ultrasonographic (US) and magnetic resonance (MR) imaging appearances of the fetal cerebral cortex at various stages of gestation is essential for the early detection of abnormal sulcal development. The primary fissures and sulci that can be examined with prenatal US and MR imaging include the parieto-occipital fissure, calcarine fissure, cingulate sulcus, convexity sulci, and sylvian fissure and insula.
Brain Diseases↗
1H MR spectroscopic characteristics of kernicterus: a possible metabolic signature.
BACKGROUND AND PURPOSE: MR examination of infants with kernicterus shows abnormal changes in signal intensity in various parts of the brain, including the globus pallidus and subthalamic regions. The purpose of this study was to retrospectively analyze proton ((1)H) MR spectroscopic data to see if the MR spectroscopic profiles of infants with hyperbilirubinemia and symptoms of kernicterus provide new insights into the pathophysiology of bilirubin neurotoxicity. METHODS: Six patients aged 3 days to 3 weeks, with hyperbilirubinemia and symptoms of kernicterus underwent MR imaging and MR spectroscopy with a single-voxel point-resolved spectroscopic sequence. The voxel of interest was centered in the basal ganglia with CSF excluded. Quantitative analysis was done by using LCModel. Between-subject comparisons were based on metabolite ratios relative to creatine. RESULTS: Ratios of taurine, glutamate and glutamine, and myoinositol relative to creatine were significantly elevated (P < .001), whereas the ratio of choline to creatine was significantly decreased (P < .001) compared with normal values published for this age group. Lactate levels were not significantly elevated. CONCLUSION: Kernicterus has a characteristic signature that is detectable on (1)H-MR spectroscopy. Our results are generally in agreement with what is known about bilirubin pathology, and the finding of increased glutamate and glutamine and decreased choline ratios indicates a possible link between hepatic encephalopathy and kernicterus. This observation may help in elucidating the pathophysiology of bilirubin neurotoxicity.
Female↗