Joint deformity patterns in severely physically disabled patients.

Deformity patterns of the spine and upper and lower extremities were investigated in 64 patients with severe physical disability. Among the subjects, C-shaped and S-shaped scoliosis was found in 48 and nine, respectively. The hips were windblown in 20, adducted in 22, and abducted in seven. Knees were flexed in 39 and extended in four. Deformities of the ankle and upper extremities were variable. The most common combination, which was C-shaped scoliosis with convexity to the adducted side of hips, windblown hips, flexed knees, and dorsiflexed ankles, was noted among nine patients. Joint deformity patterns in the 43 patients with spastic tetraplegia were not significantly different from those in the 21 patients with dyskinesia.

Motor functions in non-ambulatory children with spastic diplegia and periventricular leukomalacia.

The course of acquisition of various gross motor skills and changes in their patterns with advancing age, in addition to joint contracture, hand function, and mental ability, were investigated in 20 non-ambulatory children with spastic diplegia and periventricular leukomalacia. Among the diplegic children studied, those with lower locomotive ability also had lower hand function, lower mental ability and slower acquisition of gross motor skills. All subjects could roll by 24 months of age. Fourteen patients could creep by 18 months of age, and the remaining six by 30 months. Crawling was observed in only five patients with mild locomotive disability as a final locomotive pattern on the floor. Among ten patients with mild locomotive disability, three could sit by 2 years of age, six by 3 years, and one by 4 years. Among ten patients with severe disability, two, two, four and two children could sit at the ages of 2, 3, 4 and 5 years, respectively. Twelve patients could walk with support at between 2 and 5 years of age. Delay in acquisition of creeping or sitting differed somewhat among subjects with similar final locomotive disability. The majority of subjects with severe locomotive disability developed contracture of the hips and knees. Only two patients with mild disability had contracture of the ankles.

Gait patterns in children with spastic diplegia and periventricular leukomalacia.

Sequential changes in gait patterns were investigated retrospectively by analyzing the videotape recordings of 20 children with spastic diplegia and periventricular leukomalacia (PVL). The subjects began to walk at 1-5 years of age, and their walking was examined to 6-16 years of age. Many of the ambulatory children with spastic diplegia walked with flexed hips, knees and ankles. At the final walking examination, the knee was flexed during the stance phase in both legs and in all cases. In addition, the ankle was over-plantarflexed during the stance phase in nine cases or 14 legs, and dorsiflexed in 15 cases or 26 legs. At the initial walking, the knee was over-extended during the stance phase in seven cases or 12 legs, and was flexed in 15 cases or 28 legs. Also, the ankle was over-plantarflexed during the stance phase in 14 cases or 22 legs, and dorsiflexed in ten cases or 18 legs. Bilateral excessive ankle plantarflexion or a recurvatum knee was observed in a portion of the children at the initial phase of walking only. In the diplegic children with PVL, the gait pattern was variable.

Reading of kana (phonetic symbols for syllables) in Japanese children with spastic diplegia and periventricular leukomalacia.

In 31 Japanese children with spastic diplegia and periventricular leukomalacia (PVL), the age at which they could read Hiragana (phonetic symbols for syllables) and psychometric data were examined. Reading of Hiragana was achieved between 2 and 8 years of age in all subjects except one. Four children could read Hiragana at 2 to 3 years of age, an age which is considered early among Japanese children. Performance IQs of the Wechsler Scale were lower than Verbal IQs in 18 of 19 children who were administered this test, and DQs of the cognitive adaptive (C-A) area of the K-form developmental test (a popular test in Japan) were lower than those of the language social area in all 12 children taking this test. Among eight children having performance IQs or DQs of C-A less than 50, seven acquired reading ability of Hiragana at 8 years of age or below. A visuoperceptual disorder manifested by diplegic children with PVL does not affect the acquisition of Kana-reading ability.

Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.

We report on a Japanese boy with HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) and recurrent cerebral infarctions in the basal ganglia. The patient experienced cerebral infarctions four times between age 7 months and age 20 months. Chromosome analysis of the patient demonstrated a 46,XY, del(10)(p14p15.1) de novo. This suggests that the putative gene responsible for HDR syndrome is located at 10p14-p15.1.

Clinical profiles of subjects with subcortical leukomalacia and border-zone infarction revealed by MR.

Clinical profiles of 13 children with subcortical leukomalacia and border-zone infarction revealed by MR were analysed. The causes of brain damage were neonatal asphyxia, hypoglycaemia, circulatory disturbance associated with congenital heart diseases, and other perinatal events in five, three, two and three, respectively. Severe, moderate and mild mental retardation were present in three, five and five, respectively. Of the seven children who could walk alone, six had ataxia and one spastic diplegia; the remaining six manifested truncal instability. The ataxia was deduced to have resulted from cerebral lesions.

Mutations in the integrin alpha7 gene cause congenital myopathy.

The basal lamina of muscle fibers plays a crucial role in the development and function of skeletal muscle. An important laminin receptor in muscle is integrin alpha7beta1D. Integrin beta1 is expressed throughout the body, while integrin alpha7 is more muscle-specific. To address the role of integrin alpha7 in human muscle disease, we determined alpha7 protein expression in muscle biopsies from 117 patients with unclassified congenital myopathy and congenital muscular dystrophy by immunocytochemistry. We found three unrelated patients with integrin alpha7 deficiency and normal laminin alpha2 chain expression. To determine if any of these three patients had mutations of the integrin alpha7 gene, ITGA7, we cloned and sequenced the full-length human ITGA7 cDNA, and screened the patients for mutations. One patient had splice mutations on both alleles; one causing a 21-bp insertion in the conserved cysteine-rich region, and the other causing a 98-bp deletion. A second patient was a compound heterozygote for the same 98-bp deletion, and had a 1-bp frame-shift deletion on the other allele. A third showed marked deficiency of ITGA7 mRNA. Clinically, these patients showed congenital myopathy with delayed motor milestones. Our results demonstrate that mutations in ITGA7 are involved in a form of congenital myopathy.

Dysphagia in children with oculo-auriculo-vertebral spectrum.

Feeding difficulty necessitating tube feeding after the infantile period was seen in 3 children with oculo-auriculo-vertebral spectrum. Videofluorographic imaging showed impaired pharyngeal function, which was thought to result from dysplasia of the pharyngeal muscles. Note should be made of feeding difficulty in patients with oculo-auriculo-vertebral spectrum.

Thalamic lesions revealed by MR associated with periventricular leukomalacia and clinical profiles of subjects.

Magnetic resonance (MR) findings at the cerebral white matter and the thalamus in 44 children with spastic cerebral palsy born at preterm were analysed. Periventricular leukomalacia (PVL) was found in all of the children. Lesions of the thalamus were revealed in 22 children, 19 of which were in the anterior part of the pulvinar and 3 of which were in other areas. Gestational ages and birthweights of the children with a lesion of the pulvinar were significantly greater than those without lesions of the thalamus. Mental retardation and paroxysmal ocular downward deviation were more frequently seen in the children with a lesion of the pulvinar than in those without lesions of the thalamus. The children with thalamic lesions in areas other than the pulvinar showed the most severe motor and mental disabilities.

Linear focal elastosis: a review of three cases in young Japanese men.

Linear focal elastosis in three young Japanese men is described. The lesions are asymptomatic palpable yellow strialike bands extending horizontally across the middle and lower parts of the back. They are histologically composed of many fine wavy bundles of elastic fibers separating the dermal collagen bundles. Electron microscopy demonstrates numerous elongated and fragmented elastic fibers.

Oral motor patterns during feeding in severely physically disabled children.

Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before swallowing in 20 patients; the mouth was constantly open in nine. Eight had an up-and-down movement of the jaw without protrusion of the tongue. These patterns were frequently seen in patients with spastic tetraplegia caused by neonatal asphyxia and compensated for oral motor impairment. Sixteen patients showed lateral movement of the jaw at some time during feeding; in these patients the texture of the food was more coarse than in those with other patterns.

Bilateral internal carotid artery agenesis in a child with psychomotor developmental delay.

In a 2-year-old boy with severe psychomotor developmental delay and a dysmorphic face, a chromosome study revealed a balanced translocation: 46XY,t-(1;3)(p31.2;p21). With magnetic resonance angiography, bilateral internal carotid artery agenesis was diagnosed. Periventricular high-intensity areas were evident on T2-weighted imaging, but no major cerebral malformation was observed.

Tongue thrust swallowing in severely physically disabled children.

In five patients with severe physical and mental disabilities, a feeding pattern with tongue thrust was assessed videofluoroscopically. Forward and backward movements of the tongue associated with movements of the mandible propelled the bolus, and the insufficiently formed bolus spilled out anteriorly and laterally in part. The swallowing reflex was accompanied by tongue thrust. After the reflex, a part of the bolus frequently remained on the vallecula and pyriform sinuses. The suckle pattern shown by infants is suggested to remain and develop into this feeding pattern with tongue thrust.

Expression of heat shock protein 72 on peripheral blood mononuclear cells from patients with pustulosis palmaris et plantaris.

The expression of heat shock protein (HSP) 72 on peripheral blood mononuclear cells (PBMC) from patients with pustulosis palmaris et plantaris (PPP) was studied. PBMC isolated freshly from patients with PPP expressed HSP72, while those from psoriasis patients did not. PBMC from patients with PPP continued to express it in in vitro cultures at 37 degrees C. This expression was further augmented by in vitro heat stimulation at 43 degrees C. Immunofluorescence studies showed that approximately 20% of PBMC from patients with PPP were stained positively with anti-HSP72 antibody. HSP72 was expressed on both nonadherent and adherent cells of PBMC. These findings suggest that PBMC from patients with PPP may produce HSP72 spontaneously through their in vivo exposure to stressful agents.

Role of adhesion molecules in the development of pustular lesions in patients with pustulosis palmaris et plantaris.

The expression of adhesion molecules and the ligands on endothelial cells and infiltrating inflammatory cells in lesional skin specimens from patients with pustulosis palmaris et plantaris was studied. Intercellular adhesion molecule-1 and E-selectin were expressed on endothelial cells of microvessels in the papillary dermis. Intercellular adhesion molecule-1 was also expressed focally on keratinocytes in the epidermis of the lesional skin. On the other hand, lymphocyte function-associated antigen-1, Mac-1 and sialyl Lewis(x) were expressed on infiltrating inflammatory cells. Further, flow cytometric analysis demonstrated that circulating leukocytes in peripheral blood from patients with pustulosis palmaris et plantaris expressed the ligands of adhesion molecules. It is therefore suggested that the expression of adhesion molecules and the ligands on circulating leukocytes, endothelial cells, infiltrating inflammatory cells and keratinocytes might be closely related to the formation of pustular lesions in patients with pustulosis palmaris et plantaris.

Magnetic resonance imaging in children with neonatal asphyxia: correlation with developmental sequelae.

Magnetic resonance (MR) findings and developmental sequelae were examined in 60 patients with neonatal asphyxia. Nine patients with marked destruction of the cerebrum had the severest motor and mental disability. Six had lesions of the periventricular white matter and thalamus. Seven had border zone infarction with lesions of the white matter and thalamus. Nine had lesions of the middle-lateral part of the thalamus, putamen and peri-Rolandic area. Five with lesions of the thalamus, putamen and cerebral white matter had the severest motor and mental disability. Twenty with lesions of the thalamus and/or putamen had athetosis or clumsiness. Four with lesions of the opercular region, white matter and thalamus had feeding difficulty. Some correlation between MR findings and developmental sequelae was recognized.

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings.

We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first year of life. Abnormal eye movement and visual failure with optic atrophy were also observed early in infancy. Psychomotor development was arrested and serial neuroradiological studies showed slight progressive brain atrophy, dominantly of the brainstem. This is the first case report of PEHO syndrome, other than those dealing with the Finnish population.

Magnetic resonance imaging in children with kernicterus.

The magnetic resonance (MR) findings of three children with severe neonatal jaundice who were suspected to be suffering from kernicterus were examined. In all children high intensity areas in the globus pallidus were demonstrated bilaterally on T2-weighted imaging. The posteromedial border of the globus pallidus was shown to be the most sensitive area to kernicterus by MR findings.