Jerome A. Rusin

Cerebellar infarction from a traumatic vertebral artery dissection in a child

Infarction due to vertebral dissection is a rarely reported event in children. We describe the clinical presentation, radiological findings and surgical treatment of a child with cerebellar infarction resulting from a traumatic vertebral artery dissection. Review of the literature on stroke due to a vertebral artery dissection in the pediatric population shows that trauma is a common preceding event. Although the most common site of traumatic vertebral artery dissection is at C1-2 level, our case illustrates that the vertebral artery dissection may also involve the lower cervical segment. We emphasize that vertebral artery dissection should be considered in a child with acute symptoms and signs of posterior circulation ischemia and that MRI and MR angiography may be helpful in the diagnosis of infarction and vertebral artery dissection.

Lytic skull metastasis from a follicular thyroid carcinoma in a child.

We present a case of solitary lytic skull metastasis from a follicular thyroid carcinoma in a child. Salient clinical features, radiological findings, and histological distinctions of the metastatic skull tumor are described. Excision of the skull tumor followed by total thyroidectomy and 131I-radioablation therapy has resulted in good short-term outcome. This is the first published report of a metastatic skull lesion from a follicular thyroid carcinoma in a child. Such a malignant lesion can radiologically mimic a benign skull tumor and should be considered in the differential diagnosis of a solitary lytic skull lesion with a sclerotic margin.

Congenital Muscular Dystrophy With Complete Laminin-α2-Deficiency, Cortical Dysplasia, and Cerebral White-Matter Changes in Children

Congenital muscular dystrophy consists of Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, muscle-eye-brain disease, and occidental congenital muscular dystrophy, which is further divided into laminin-α2-positive and laminin-α2-negative subgroups. These forms of congenital muscular dystrophy are frequently associated with abnormal white-matter changes, whereas the Fukuyama form, Walker-Warburg syndrome, and muscle-eye-brain disease are also frequently found to have polymicrogyria. We now report two infants with complete laminin-α2-deficiency who have not only abnormal cerebral white-matter lesions, but also bioccipital polymicrogyria. There are significant similarities in the clinical and cerebral manifestations among the various types of congenital muscular dystrophy. The diagnosis of the Fukuyama form, laminin-α2-deficiency, Walker-Warburg syndrome, and muscle-eye-brain disease cannot always be established on radiological studies alone. (J Child Neurol 1998;13:253-256)

Mitochondrial respiratory-chain defects presenting as nonspecific features in children

Patients with mitochondrial respiratory-chain defects frequently exhibit lactic acidosis, ragged red fibers in skeletal muscle samples, and abnormal enzyme assays for the respiratory-chain complex. However, ragged red fibers and lactic acidosis are not always seen in all patients with mitochondrial respiratory-chain defects. We have encountered six children with biochemically proven respiratory chain defects, but typical ragged red fibers were not found in all six patients, and only five patients had increased serum lactate levels. Initially, they present with nonspecific features. However, persistent or progressive clinical features or multiple organ involvement eventually led to the diagnosis of respiratory-chain defects in these patients. Mitochondrial respiratory-chain defects should be considered in the differential diagnosis when persistent, progressive features and especially multiple organ involvement occur. (J Child Neurol 2000;15:445-448).

Leigh Syndrome, Cytochrome C Oxidase Deficiency and Hypsarrhythmia with Infantile Spasms

A rare patient with infantile spasms, hypsarrhythmia, cytochrome c oxidase deficiency and Leigh syndrome is reported. Although rare, infantile spasms and Leigh syndrome may occur simultaneously. Leigh syndrome should be included in the differential diagnosis of infantile spasms.

Cranial Nerve and Cervical Root Enhancement in an Infant With Polymerase Gamma Mutation Mitochondrial Disease

BACKGROUND Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT A 4-month-old boy was referred for poor feeding, emesis, failure to thrive, and hypotonia. RESULTS Brain computed tomography was normal. Brain magnetic resonance imaging with and without contrast demonstrated bilateral enhancement of cranial nerves III, V-X, and the upper and midcervical nerve roots. Liver biopsy revealed early cirrhosis, steatosis, and focal necrosis. Muscle biopsy did not demonstrate specific abnormalities of mitochondrial morphology or number. Electron transport chain analysis of both fibroblasts and muscle demonstrated deficiencies. Because of suspected mitochondrial depletion disorder, testing was performed for mitochondrial abnormalities including analysis of the POLG gene, which revealed two pathogenic mutations, c.1399G>A (p.A467T) and c.3285C>G (p.S1095R). CONCLUSIONS We report abnormal gadolinium enhancement of multiple cranial nerves and cervical nerve roots in an infant with myocerebrohepatopathy spectrum disease whose brain MRI otherwise revealed only mild atrophy. Mitochondrial disease should be included in the differential diagnosis of cranial nerve enhancement. Contrast-enhanced MRI aids in the diagnostic evaluation of infants with developmental delay and suspected neurological disease.

Magnetic resonance imaging in neonatal citrullinemia

Citrullinemia is a rare inborn error of urea cycle metabolism causing hyperammonemia. In the classic form, a newborn presents with poor feeding, vomiting, progressive lethargy and signs of increasing intracranial pressure 3–7 d after birth, rapidly progressing to apnea, coma and death if untreated. We found only two reported cases in the literature describing magnetic resonance imaging findings of neonatal citrullinemia. We present a case of neonatal citrullinemia with more extensive and asymmetric magnetic resonance imaging abnormalities, including evidence of both superficial and deep venous cerebral infarction.

Erratum to: New C2 synchondrosal fracture classification system

Fig. 1 Normal synchondroses. a Coronal CT image in a 12-month-old boy shows the five central C2 synchondroses — bilateral neurocentral (small arrows), bilateral odontoneural (large arrows) and the single transverse odontocentral synchondrosis (asterisk) — are all open. The apicodental synchondrosis (A) is also open and os odontoideum is not yet ossified. b, c Axial CT myelogram images in 6-month-old boy show normal immature C2 anatomy — bilateral neurocentral (large arrows in b) and bilateral odontoneural (small arrows in c). C2 neural arches (C2 na), C1 lamina (C1) and the odontoid (O) are labeled for reference