Osteoporosis pathology in people with severe motor and intellectual disability.

Objectives: We assessed the severity and pathology of osteoporosis in children and adults with severe motor and intellectual disabilities (SMID) by evaluating bone enzymes, by which we aimed to determine adequate treatment approaches for preventing fractures.

Methods: Ninety patients (44 men, 46 women; mean age, 34.5 years) underwent bone quality assessment.

[Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance].

We reported 19 cases of school-aged children. They were initially judged to have learning difficulty or school maladaptation because of attention deficits, hyperactive behaviors or poor school performance, followed by the diagnosis such as degenerative or metabolic neurological diseases. The patients consisted of 4 cases of adrenoleukodystrophy, 5 cases of dentatorubral-pallidoluysian atrophy, 3 cases of Sanfilippo syndrome, 3 cases of subacute sclerosing panencephalitis, and each one case of juvenile Gaucher disease, juvenile Huntington disease, juvenile metachromatic leukodystrophy and Leigh disease.

[Delineation of the anatomical relationship of innominate artery and trachea by respiratory-gated MR imaging with true FISP sequence in patients with severe motor and intellectual disabilities].

Tracheoinnominate artery fistula is a well-known complication that arises on using a cannula. Therefore, routine examination of the anatomical relationship of the innominate artery and trachea should be carried out. We evaluated the usefulness of magnetic resonance imaging in 5 patients with severe motor and intellectual disabilities (SMID) using a combination of true-fast imaging of steady-state precession (true-FISP) sequences and two-dimensional prospective acquisition correction (2D-PACE).

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

The mitochondrial DNA (mtDNA) G13513A mutation in the ND5 subunit gene has been recently reported as a common cause of some phenotypes of mitochondrial myopathy. Until now, the prevalence and characteristics of this mutation in Leigh syndrome (LS) has not been determined. We screened 84 patients with Leigh syndrome (LS) and found the mutation in six (7%) of them.

Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.

We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic A to G point mutation in the tRNA(Lys) gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers cytochrome c oxidase positive strongly succinate dehydrogenase-reactive blood vessels.