Camptomelic dysplasia: A case report

Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17) with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm), dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristic skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients.

The efficacy of two protocols for inducing motor cortex plasticity in healthy humans - TMS study

Stimulation-induced plasticity represents an experimental model of motor cortex reorganization. It can be produced in awaked humans by combining the non-invasive electrical stimulation of somatosensory afferents via mixed peripheral nerves with the transcranial magnetic stimulation (TMS) of the motor cortex. Animal experiments indicate that an application of two converging inputs from various sources in a tightly coupled manner, following the so called Hebbian rule of learning, leads to an increase in motor cortical excitability. The aim of our study was to compare the effects of two plasticity-inducing protocols by quantifying the motor cortex changes using TMS. Plasticity was induced by combining peripheral nerve stimulation with TMS (paired associative stimulation - PAS) and by peripheral motor point stimulation of two adjacent hand muscles (dual associative stimulation - DAS). The protocols were randomly applied in 12 right-handed healthy volunteers. The amplitudes of TMS-induced motor-evoked potentials (MEPs) in the right abductor pollicis brevis muscle were recorded before, immediately after PAS or DAS stimulation, and 10, 20 and 30 min later. Both protocols led to significant and lasting changes in MEP amplitudes, however, a significantly larger increase in MEPs was observed after PAS than DAS. The results indicate that afferent input can differently affect cortical motor circuits and produce variable motor output. Thus, the efficacy of LTP-like mechanisms, presumably involved in Hebbian-like plasticity in humans, varies with the types/origin of the converging inputs. Our findings may be relevant when designing therapeutic interventions for improving motor function after neurological injury or disease