Margaret Jaynes

ALEXANDER'S DISEASE: UNIQUE PRESENTATION

Subacute necrotizing encephalomyelopathy (Leigh syndrome) refers to a nebulous disease entity characterized by lactic acidosis, a wide variety a clinical manifestations, and a consistent conglomeration of pathlogic findings. Several abnormalities in metabolism have been delineated in association with Leigh syndrome, but many cases have no identified metabolic abnormality. We report a case that clinically, metabolically, and neuroradiologically appeared to be Leigh syndrome. In addition, our patient exhibited other unusual clinical findings, including ocular motility abnormalities. Neuropathologically, however, the diagnosis of Alexanders disease was confirmed. A review of the literature failed to find other cases of Alexanders disease reported with the metabolic abnormalities and clinical manifestations with which our patient presented (J Child Neurol 1999;14:325-336).

The rise and fall of the plantar response in infancy

To determine when the plantar response becomes reliably flexor in infants, 169 infants underwent serial evaluation from 2 weeks to 12 months of age during routine well-child visits. The plantar response, elicited in a standardized fashion, was extensor in 95.5%, 64.8%, 10.9%, 0.7%, and 0% of the infants at 2, 4, 6, 9, and 12 months, respectively. The plantar response becomes predominately flexor by 6 months of age in normal infants. This maturation of response correlates closely with that of other infantile reflexes.

Stroke Due to a Traumatic Vertebral Artery Dissection in a Girl

pendently with eyes open and was able to walk only with support. A complete blood count, serum lactic acid, routine chemistries, and echocardiography were normal. Her coagulation profile was normal, including platelet counts, prothrombin time, antithrombin III, protein C, and antilupus anticoagulant. A cranial CT scan showed mild hydrocephalus and a large, lucent inferior vermian cerebellar lesion that extended

ULTRASTRUCTURE OF THE RETINA IN ADULT NEURONAL CEROID LIPOFUSCINOSIS

A 33-year-old woman died of biopsy-proven adult neuronal ceroid lipofuscinosis (NCL) or Kufs’ disease marked by fingerprint and curvilinear lipopigments in neural and nonneural cell types. She had never experienced visual impairment or shown electroretinographic abnormalities. At autopsy, her retina appeared intact without degeneration at the light-microscopic level, but nerve cells in different layers were loaded with lipopigments of the granular type. This appears to be the third ultrastructural study of the retina in a patient with adult NCL, a former one showing preservation of the retina, another retinal degeneration. Thus, only further molecular genetic data will clarify the nosology of adult NCL with and without retinal degeneration.

Agenesis of corpus callosum

This 20-month-old girl was found to have an abdominal mass. She was known to have an 8p + karyotype with multiple congenital anomalies including the Pierre Robin sequence. Computed tomography disclosed agenesis of the corpus callosum. The child died following resection of a nephroblastoma. The neuropathological findings are illustrated and discussed.

The utility of the determination of CTG trinucleotide repeat length in hypotonic infants

A 9-month-old male infant was floppy from birth with nonprogressive facial and distal limb weakness and apparently normal mother and father. The facial characteristics and distribution of involvement suggested congenital myotonic dystrophy and the infant, but not the mother, had insertional myotonia in one of four muscles tested. Had the number of CTG trinucleotide repeats been tested when the presence of a congenital myotonic dystrophy-like clinical picture was first appreciated, the proper diagnosis could have been made several months earlier. The application of new molecular genetic techniques is changing the usual sequence of studies performed in the evaluation of the hypotonic infant.

Spinal cord mass and deferral of biopsy: a therapeutic dilemma.

most frequent in children.’ The clinical history and examination, though useful, are limited in their ability to differentiate between neoplastic and non-neoplastic etiologies. Magnetic resonance imaging (MRI) is the noninvasive modality of choice for evaluating spinal cord masses. Lesions that are expansive, occupy the entire thickness of the spinal cord, and contain heterogenous areas of enhancement are likely to be neoplastic in origin.2 Unlike cerebral and cerebellar masses, which can often be biopsied safely, brainstem and spinal cord masses must frequently be managed in the absence of a histologic diagnosis. A teenager with a mass in the spinal cord with MRI characteristics of neoplasm refused biopsy and presented a therapeutic dilemma.

The Plantar Response in Normal Newborn Infants

The neonatal plantar response has been reported as extensor in 90% of newborns and flexor in 93% of newborns, leading to uncertainty about its reliability and significance. To determine the normal neonatal plantar response we examined 349 healthy newborn infants, >32 weeks gestation within 24 hours of birth. A supramaximal noxious stimulus was applied in a standardized manner to the lateral plantar surface of each foot. The plantar response was extensor in 90%, equivocal in 7%, and flexor in 3%. With proper physiologic technique, the normal neonatal plantar response is extensor.

Melatonin to Treat Fragmented Sleep Needs Study

nerve compound muscle action potential was 0.4 mV, the mean median nerve F response in four of the six patients (absent in two) was 33 msec, while two patients had evidence of conduction block prior to intravenous immunoglobulin treatment. All patients made a rapid recovery clinically and neurophysiologically (mean time to improve by at least one grade on the functional GuillainBarr6 syndrome scale, 2.9 days; follow-up period, 10.5 months). The only intravenous immunoglobulin-related side effect noted was a headache in a 14-year-old male patient, which subsided promptly after the use of paracetamol. We agree with Wong and Glauserl that serious complications from the use of intravenous immunoglobulin are rare in children with Guillain-Barr6 syndrome and are related to increased serum viscosity. The safety and efficacy of this treatment remains to be determined by randomized control studies.

Dissociated Excitation‐Contraction Coupling in Infantile Pompe Disease

Bj€ orn Enzi, MD Christian Boy, MD Annika Kowoll, MD Jens Eyding, MD Uwe Schlegel, MD Department of Neurology, University Hospital Knappschaftskrankenhaus Bochum, Ruhr University Bochum, Bochum, Germany Department of Psychiatry and Psychotherapy, LWL University Hospital Bochum, Ruhr University Bochum, Bochum, Germany Department of Diagnostic and Interventional Radiology, Neuroradiology and Nuclear Medicine, University Hospital Knappschaftskrankenhaus Bochum, Ruhr University Bochum, Bochum, Germany