Slowly progressive d-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing.

d-Bifunctional protein (DBP) deficiency is an autosomal recessive disorder of peroxisomal fatty acid oxidation caused by mutations in HSD17B4. It is typically fatal by the age of two years with symptom onset during the neonatal period, and survival until late childhood is rare. We herein report the case of a patient with DBP deficiency surviving until adulthood, who showed severe sensorineural deafness, disturbances in language acquisition, slowly progressive cerebellar ataxia, and peripheral neuropathy.

[Effect of intrapulmonary percussive ventilation in a severely disabled patient with persistent pulmonary consolidation].

An intrapulmonary percussive ventilator (IPV) improves airway clearance and lung function, and is useful for wide variety of respiratory disorders, such as cystic fibrosis, chronic obstructive pulmonary disease, aspiration pneumonia, and neuromuscular diseases. However, there are few reports on IPV use in patients with severe neurological impairment, scoliosis and thoracic deformity. They have poor mobility of the rib cage and difficulty in sputum expectoration.

[An estimation chart for the possibility of aspiration in patients with severe motor and intellectual disabilities: its reliability and accuracy].

Although the most common cause of death in patients with severe motor and intellectual disabilities (SMID) is aspiration pneumonia, there are no criteria to detect aspiration. We have been making an evaluation tool to detect aspiration in patients with SMID easily, in cooperation with the project of comprehensive study of disability, social health, and welfare, supported by the Ministry of Health, Labor and Welfare, Japan. Here we studied the reliability and accuracy of the 2001 edition of the "questionnaires for functions of eating and swallowing" and "estimation chart for the possibility of aspiration" in 20 patients with risk of aspiration (13 with cerebral palsy, six with acquired cerebral palsy and one with muscle disease).

[Adverse effects of dichloroacetate in a girl with mitochondrial disorder].

We present the effects and adverse effects of dichloroacetate (DCA) in a girl with mitochondrial disorder. Oral administration of DCA 50 mg/kg per day, reduced the elevated levels of lactate to below the normal range. Treatment with DCA ameliorated electroencephalogram abnormalities, but caused the adverse effects with hepatomegaly and decreased activity, which were improved by reduction or withdrawal of DCA.