[Factors relevant to long-term social prognosis of patients with spina bifida].

With the recent advances in medical techniques, many patients with spina bifida have survived to adulthood. We reported here on the present social life and complications in 43 spina bifida cases followed up in the Tochigi Rehabilitation Center. Fourteen of 23 patients (61%) above eighteen years of age were able to achieve an independent social life. Most of these patients could walk with or without crutches and did not have mental retardation. Nine of these fourteen patients (64%) were capable of natural or high pressure urination and only three patients (21%) required the clean intermittent catheterization technique. In school-age patients, all the nine junior and senior high school students and three of the nine primary school students were attending a school for the handicapped. Their independent social life was related not only to the degree of severity of their disability, but also to the aid afforded by the society.

[A case of hereditary motor and sensory neuropathy with congenital cataract and mental retardation].

A 6-year-old boy with hereditary motor and sensory neuropathy (HMSN), congenital cataract and mental retardation was reported. The condition commenced with distal weakness and wasting of lower limbs. Subsequently marked right pes cavus and equinovarus deformity appeared. Motor and sensory conduction velocities in the limbs were slowed. Pathological examination of biopsied sural nerve showed significant loss of large myelinated fibers. Neither demyelination nor onion bulbs were observed. For clinical and neuropathological findings, the present case did not fit in with previously reported cases of HMSN. The case was classified as a new variant of HMSN type II.

[Methylmalonic acidemia with bilateral MRI high intensities of the globus pallidus].

We report a patient with methylmalonic acidemia who developed an acute extrapyramidal disorder after severe ketoacidosis. The neurologic findings resulted from bilateral destruction of the globus pallidus. A 10-year-old girl was the term product of an uncomplicated pregnancy and delivery. Poor feeding and vomiting were noted after one month. She was hospitalized at 6 months of age with vomiting, coma and tachypnea. Analysis of urinary organic acids revealed a massive amount methylmalonic acid. She was not vitamin B 12-responsive and was maintained on a low-protein diet. At 33 months of age, she was able to walk and speak, but she developed acute severe ketoacidosis. Involuntary movements and spastic paraplegia became evident two days after admission. Subsequently, the patient has had metabolic ketoacidosis once or twice a year. Her intelligence quotient was 47. Neurologic examination revealed spastic paraplegia and generalized hypotonicity with mild dystonia. Some relief from dystonic symptoms has been obtained through the use of L-dopa. A brain CT scan at 5 years of age disclosed bilaterally symmetric lucencies of the globus pallidus. T2-weighted brain MRI at 8 years of age showed bilateral symmetric high intensities of the globus pallidus.

Ultrasonography of ovary, uterus and breast in premature thelarche.

We studied 17 girls with the complaint of premature breast development. Enlarged breast tissue was confirmed in 15 patients by sonography. Pelvic and breast sonography were also performed in these patients. The sizes of most uteri and ovaries were within the normal range. Nine of the 15 patients (60%) showed follicular cysts in the ovaries. These cysts were ovoid with diameters of up to 10 mm. No relationship was found between the thickness of breast tissue and the ovarian findings. Pelvic sonography was also performed in normally developing girls under 6 years of age. Four of 47 girls (4%) showed small follicular cysts in the ovaries. In summary a high percentage of patients with premature thelarche have relatively large follicular cysts, with normal sized ovaries and uteri. Breast sonography is useful to distinguish swollen subcutaneous tissue from breast development.

Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes) is a major subgroup of heterogeneous mitochondrial diseases. For identifying a mutation in the mitochondrial gene, we isolated, from the same muscle tissue from a patient with MELAS, cell lines with distinctly different phenotypes: one was respiration-deficient, and the other was apparently normal. Compared with the normal cells, only one A-to-G nucleotide transition at nucleotide 3243 in the tRNA-Leu (UUR) gene was found in whole mtDNA of the respiration-deficient cells. This mutation was also found in eight patients, from unrelated families, who had MELAS in a heteroplasmic manner but was not found in control individuals. Therefore, the single point mutation causes the functional abnormality in the respiratory chain of mitochondria.

[Computed cranial tomography, magnetic resonance imaging and brain echo imaging in Japanese B encephalitis].

We reported computed cranial tomography (CCT), magnetic resonance imaging (MRI) and brain echo imaging in Japanese B encephalitis. The result were assessed in comparison with the clinical feature of the disease. CCT of the three patients showed low density in thalamus and basal ganglia. In two, the lesions were detected in the acute phase, and changed to high density in the chronic phase. Their prognosis was poor, psychomotor delay and paresis persisted. Among the previously reported sixteen patients of Japanese B encephalitis in Japan, the four developed thalamic lesions on CCT and the prognosis was poor in all patients. Brain echo detected the lesions in the acute phase before CCT visualised them clearly. MRI demonstrated thalamic hemosiderin deposits and calcification. These findings were compatible with the pathological findings, or past hemorrhage and organization. The distribution of the lesion were closely connected with the prognosis.

[Endocrinological analysis of chronic hypernatremia in two cases of hydranencephaly].

We reported two infants with hydranencephaly and chronic hypernatremia. Their plasma sodium concentration gradually increased during the first week and remained between 150-160 mEq/L thereafter. They showed no signs of thirst. A water deprivation test demonstrated low urine osmolality and low plasma ADH concentration despite markedly elevated plasma osmolality in both cases. Urine was significantly concentrated when vasopressin was given. Thus, it was concluded that both thirst mechanism and ADH secretion were disturbed in these two cases. ADH producing cells, the thirst center and the osmoreceptor are all located in the hypothalamus. Radiographic measures showed dysplasia of the hypothalamus, providing the anatomical basis for their dysfunction.

[Magnetic resonance imaging of intracranial lesions of tuberous sclerosis].

Six patients with tuberous sclerosis were evaluated with computed cranial tomography (CCT) and magnetic resonance imaging (MRI). The results were assessed in comparison with the clinical severity of the disease. The brain lesions were shown by MRI as low-signal areas on IR images (T1 weighted sequences) and high-signal areas on SE images (T2 weighted sequences) Three patients, who had severe psychomotor retardation (DQ less than 70) and intractable epileptic seizures following infantile spasms, had many cortical and subcortical lesions. In the other three patients, intelligence was normal or slightly retarded (DQ or IQ greater than 70) and epileptic seizures were well controlled, and small subependymal lesions were observed. Cortical lesions were rare. These results indicate that MRI can detect more precisely intracranial lesions in tuberous sclerosis.

Cytochrome c oxidase--deficient myogenic cell lines in mitochondrial myopathy.

In a patient with mitochondrial myopathy, the defect of cytochrome c oxidase activity was restricted to some muscle fibers. To isolate cell lines with or without oxidase activity from a single muscle sample, primary cultured cells were transformed by replication origin-defective simian virus 40, and then cloned. The clones were examined by cytochemical staining for cytochrome c oxidase activity. Eight myogenic clones were completely devoid of activity, while the other myogenic and nonmyogenic clones were not. Deficiency of cytochrome c oxidase was stable in culture for at least a year after serial passaging. The amount of mitochondrial DNA in cytochrome c oxidase-deficient cells was the same as in control cells, and no deletion in the mitochondrial DNA was detected. Protein synthesis in mitochondria of the subunits of cytochrome c oxidase and subunit 6 of the ATP synthase complex was markedly decreased, whereas synthesis of the other subunits encoded by mitochondrial DNA was normal. These cloned cell lines provide an excellent system for clarifying the cause of mitochondrial myopathy and for investigating nuclear-mitochondrial genetic interaction.

Cardiac tumour in a neonate with tuberous sclerosis: echocardiographic demonstration and magnetic resonance imaging.

In a neonate with tuberous sclerosis, cardiac tumours were diagnosed by two-dimensional echocardiography and evaluated by electrocardiogram-gated magnetic resonance imaging (MRI). The tumour size, shape and mobility in the ventricular cavities were more precisely determined by two-dimensional echocardiography than electrocardiogram-gated MRI, while the extent of tumour mass at the apex was more clearly delineated by MRI. As two-dimensional echocardiography provides real-time imaging of cardiac anatomy without sedation, it is useful for initial evaluation of cardiac masses in neonates with genetic predisposition to tuberous sclerosis.