[Evaluation of serum total carnitine values in persons with severe motor and intellectual disabilities with enteral (tube) feeding].

OBJECTIVE: The nutritive evaluation and the serum carnitine values were measured for persons with severe motor and intellectual disabilities with enteral (tube) feeding. METHODS: In Shimada Rehabilitation Center, twenty one people who had serum albumin levels of 3.4 g/dl or less, and were taking nutrition with enteral (tube) feeding, were tested. Body weight, blood samples, and serum carnitine levels were measured. RESULTS: The total carnitine value was less than the standard value in 19 patients. The total carnitine value decreased in the group taking valporate sodium (VPA), compared to the values from the group non-taking VPA. CONCLUSIONS: From our evaluation, we think that daily carnitine supplements is essential for persons with sever motor and intellectual disabilities taking VPA to maintain carnitine levels in the blood, and regular urine test should be done for earlier detection secondary lack complications from the secondary lack of carnitine.

[Acute encephalopathy with biphasic seizures and late reduced diffusion with visual disturbance and higher brain dysfunction].

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a recently described clinicoradiologic syndrome. Clinically, a prolonged febrile seizure is followed by subsequent seizures which occur several days after the initial seizure. On MRI, reduced diffusion appears predominantly in the frontoparietal subcortical white matter at the time of the subsequent seizures. The main symptom between the initial and subsequent seizures is disturbance of consciousness. We report a case with AESD who presented 1) reduced diffusion on MRI which was dominant in the occipital lobe, and 2) reversible visual disturbance followed by higher brain dysfunction such as a cognitive deficit and disturbed speech. A 2-year-old Japanese girl was admitted because of visual disturbance which appeared 4 days after a generalized tonic-clonic seizure associated with fever. Two days later, she had another seizure when MRI revealed reduced diffusion in the subcortical white matter. The MRI finding was not typical of AESD in that reduced diffusion appeared dominantly in the occipital lobe. Normal ophthalmologic findings and abnormal visual evoked potential results suggested that her visual disturbance was due to an impaired visual pathway in the subcortical white matter in the occipital lobe. The present case indicates that there is a subgroup of AESD in which the subcortical lesion seen on MRI is dominant in the occipital lobe.

[Dysgenesis of the carotid artery associated with congenital ipsilateral Horner syndrome].

We report a case with dysgenesis of the carotid artery associated with congenital Homer syndrome. A 6-year-old boy, who had undergone surgical repair for pulmonary atresia, ventricular septal defect, and patent ductus arteriosus at 20 months of age, presented with miosis of the left eye, and anhidrosis of the left face, neck, and shoulder girdle. Since the anhidrosis was obvious in early childhood, he was suspected as having congenital Horner syndrome. Cranial and cervical CT showed unpredicted abnormalities of the left carotid arteries, including the absence of an internal carotid artery (ICA), and hypoplasia of the common carotid and external carotid arteries. The anterior and middle cerebral arterial flow was supplied through the communicating arteries. Congenital agenesis of the ICA was highly suspected, because the left carotid canal could not be discerned at all. The concurrence of agenesis of ICA with ipsilateral Horner syndrome is accounted for by simultaneous organogenesis of the carotid artery and cervical sympathetic nerve, both of which are derived from neural crest cells. Developmental anomalies of the cervical neural crest, though rare, should be included in the differential diagnosis of congenital Homer syndrome.