Neuropediatrics
-
Laminin-2 (merosin) is a heterotrimer composed of alpha 2, beta 1 and gamma 1 chains. Approximately half of the cases with the classical form of congenital muscular dystrophy (CMD) have a deficiency of the laminin alpha 2 chain, encoded by the LAMA2 gene on chromosome 6q22. This disorder is often termed merosin-deficient CMD. ⋯ Studies of mRNA of cultured skin cells suggest that fibroblasts are the major source of laminin alpha 2, not keratinocytes. Our data show that skin is useful for the assessment of merosin status in patients with CMD and that skin fibroblasts may be a useful source of tissue-specific RNA. In addition, we show that there is a tissue-specific difference in the developmental expression of the laminin alpha 2 protein.
-
A strategy for detection of mutations in CLN3, the gene for Batten disease or juvenile onset neuronal ceroid lipofuscinosis, has been devised using a technique which detects conformation polymorphisms and direct sequencing of genomic DNA fragments. We define two mutations found uniquely in Finnish patients, one a large deletion (2.8 kb), the other a point mutation affecting the 5'splice donor site of an intron.
-
Case Reports
Coma with abnormal movements and prolonged cognitive disturbances: a new subset of acute encephalopathy.
We describe two children who presented with an acute encephalopathy preceded by a prodromal illness. The disease was marked by an active phase of coma or confusion with abnormal motor movements, followed by a recovery phase with a rapid return of motor function and a gradual improvement in speech and social behavior. No cause was found. These may be additional representative cases of a new syndrome of encephalopathy which is characterized by a distinctive course and a relatively good prognosis.
-
Complex febrile convulsions were the initial clinical manifestation of miliary tuberculosis in a 4-year-old immigrant girl. The cerebral lesions were visible only after contrast-enhanced cranial computed tomography (CT) while native CT scan as well as cell count and glucose concentration in the cerebrospinal fluid were normal. ⋯ Treatment with isoniazid and rifampin for 12 months, pyrazinamide for 9 months, and ethambutol for the initial 6 weeks resulted in resolution of the cerebral lesions but a retinal scar after granuloma formation in the right eye caused reduced visus. This case demonstrates the importance of thorough search for tuberculosis even in the absence of overt clinical pulmonary signs especially in high-risk individuals such as immigrants.
-
Persistent vegetative state (PVS, apallic syndrome) has become a significant medical and social problem. The outcome of young people with PVS is a matter of great interest. Therefore, we analysed the outcome of 127 children and adolescents who were in PVS for at least 30 days following traumatic (n = 82) or hypoxic (n = 45) brain injury. ⋯ Thirteen patients (16%) with TBI became independent in everyday life versus only two (4%) with HBI. These results underline the important contribution of hypoxia in severe and permanent brain impairment. They also may help to establish the prognosis of children in PVS.