Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5.

Hypothalamic hamartomas (HHs) are nonneoplastic mass lesions located in the hypothalamus that can cause central precocious puberty (CPP) and/or gelastic seizures. Seckel syndrome 5 (OMIM210600, SCKL5) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retardation, proportionate osteodysplastic primordial dwarfism, a wide range of intellectual disability, "bird-headed" facial features, and microcephaly with various structural brain abnormalities. Two siblings presented with short stature and small head circumference and were diagnosed with SCKL 5. The younger sister had HH with CPP and experienced a slipped capital femoral epiphysis during treatment. The 2 siblings had the same genetic variant but showed different phenotypes, which has not been reported previously; this study also as presents the first cases of SCKL5 diagnosed by genetic confirmation in Korea.

Analysis of lower limb bradykinesia in Parkinson's disease patients.

AIM: Bradykinesia of the lower limb is an important limiting factor of the quality of life in parkinsonian patients. This study aims to develop quantitative measures of bradykinesia and to investigate the possible dissociation of amplitude and velocity measures and their dependence on movement direction during toe-tapping. METHODS: Subjects included 39 patients with PD, as well as 14 healthy control subjects. A gyrosensor on the dorsum of a foot was used to measure ankle joint movement during toe-tapping. Four representations (root-mean square, mean peak, coefficient of variation in peaks, peak in the last 5 s) for each of amplitude and velocity and for each of plantar flexion and dorsiflexion movement of toe-tapping were investigated. Outcome measures were compared between patients and controls, and their correlations with clinical scores were investigated. Category distributions of outcome measures in patients were analyzed. RESULTS: All outcome measures were smaller in patients than in controls (P < 0.001) and correlated well with clinical scores (P < 0.01). The mean peak of plantar-flexion velocity and variation of dorsiflexion velocity best represented the clinical toe-tapping score (r = 0.72-0.81). All clinical scores showed better correlation with velocity than with amplitude, and velocity was more affected (dispersed from the performance of controls) than amplitude. Movement directions had a slight effect on the results; specifically, the magnitude measures better correlated during plantar flexion and the variation measure better correlated during dorsiflexion. CONCLUSION: The suggested measures represented clinical scores well and are expected to be helpful in clinical diagnosis of lower limb bradykinesia. Possible dissociations of amplitude and speed impairments and of movement directions in PD deserve further investigation.