[The early rehabilitation in children with Down. Paying special attention to shuffling and comorbidities of developmental disorder].

Objective: There have been many reports on the effects of early rehabilitation in children with Down syndrome, which have demon- strated that early intervention improves motor skill acquisition and prevents a shuffling gait in these children. With regard to the mental development and mental health of these children, they are known to be friendly and social but some experience difficulties with nursing. Recently there have been a few reports on comorbidities of developmental disorders in Down syndrome.

[Disturbed respiratory cycle accompanying hypoxic-ischemic encephalopathy].

We report the case of a 2-year-old boy who experienced total asphyxia at 4 months of age, and suffered abnormalities at specific phases of the respiratory cycle. The patient was bedridden due to severe tetraplegia and showed little response to external stimuli. He has been tube-fed since the initial asphyxia and a tracheotomy was performed after recurrent hypoxic episodes as a result of the respiratory dysfunction.

Brain MRI findings of older patients with Pallister-Killian syndrome.

Pallister-Killian syndrome (PKS) is a disorder caused by a mosaic tetrasomy of chromosome 12p, which manifests with dysmorphism, intellectual disabilities, auditory disturbance, and epilepsy. Here, we describe the findings of brain magnetic resonance (MR) imaging in two patients with PKS. One patient, a 43-year-old man, showed multiple lesions with high signal intensity on T2-weighted image (WI) in the basal ganglia, and widespread T2 elongation in the periventricular white matter.

Cerebellopontine calcification: a new entity of idiopathic intracranial calcification?

We report the autopsy case of a 40-year-old woman with severe intellectual and motor disabilities, who showed calcification in the cerebellum and pons but not in the basal ganglia on CT scan, and died of intracranial hemorrhage due to intractable hypertension. At autopsy, numerous calcium deposits were noted in the cerebellar cortex, the dentate nucleus, the cerebellar white matter and the ventral pons. These deposits were distributed both in the neuropil and the white matter, but rarely within the arterial walls or in contact with capillaries.

Laryngeal dystonia in xeroderma pigmentosum.

We report on three patients with xeroderma pigmentosum group A (XPA) who showed laryngeal stridor in their 20s. The stridor appeared on feeding and emotional excitation, was exaggerated during respiratory infection and was life-threatening on some occasions. Adduction of the vocal cords during inspiration, observed by laryngoscopy, confirmed laryngeal dystonia in all cases.

Stability of species composition of fecal bifidobacteria in human subjects during fermented milk administration.

Bifidobacteria play important roles in human health. However, the influence of exogenous factors on species composition of fecal bifidobacteria is still unclear. The objective of this study was to investigate the effects of fermented milk administration on the species composition of fecal bifidobacteria by molecular biological methods.