[Hereditary motor and sensory Lom-neuropathy--first Hungarian case report]. / Herediter motoros és szenzoros Lom-neuropathia. Elso magyarországi közlés.

Hereditary motor and sensory neuropathy-Lom is an autosomal recessive disorder of the peripheral nervous system, which occurs only in the european Roma population. The symptoms start in the first decade with slowly progressive gait disturbance, weakness and wasting of distal upper extremity muscles, joint deformities and hearing loss develop later in the second and third decades. This disorder is caused by a homozygous missense mutation of the NDRG1 gene, located in the 8q24 region. The Schwann cell dysfunction is most probably caused by altered lipid metabolism as a consequence of the NDRG1 mutation. Molecular genetic testing can be a first diagnostic step among roma individuals showing a Lom neuropathy phenotype, making evaluation of such patients and also genetic counselling faster and easier. Screening for hereditary neuromuscular disorders in this genetically isolated community may become an important public health issue in the near future.

[Congenital cataracts facial dysmorphism neuropathy syndrome--first Hungarian case report]. / Congenitalis cataracta facialis dysmorphismus neuropathia szindróma--elso magyarországi közlés.

The congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is a recently described autosomal recessive developmental disorder. It is almost completely restricted to an endogamous group of the European Vlax Roma population, called the Rudari. The CCFDN syndrome is a complex phenotype involving multiple systems, characterized by facial dysmorphism, congenital cataracts, microcorneae, delayed early motor and intellectual development, hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia. This disorder is caused by a homozygous mutation of the carboxy-terminal domain phosphatase 1 (CTDP1) gene, localized to the 18q23 region. Authors present one genetically identified case in a large Roma family. The case documents that the CCFDN mutation is present also in the Hungarian Roma population. Underlie of antropomorphological data the authors presume that the CCFDN mutation reached Hungary as a result of emigration of Vlax Gypsies in the 18th century. The paper calls attention to the fact that molecular genetic diagnostics can replace invasive methods and makes possible the identification of heterozygotes without clinical symptoms. The introduction of the genetic screening enables us to perform genetic counselling and prevention in this high-risk population.

[Acute quadriplegia after diabetic ketoacidosis]. / Diabeteses ketoacidózis után kialakuló akut tetraplégia.

A 36-year-old female was admitted to the intensive care unit after resuscitation diagnosed with diabetic ketoacidotic coma, which was the first manifestation of her diabetes mellitus. It may have been provoked by pulmonary or gastrointestinal coinfection. Five days following admission the patient regained consciousness and homeostasis returned to normal. One week after the stabilization of her cardiopulmonary state, weaning from the respirator turned out to be unsuccessful: flaccid tetraparesis developed with rapid muscle atrophy and absence of deep tendon reflexes. The sensory system and cranial nerves remained intact. Electrophysiological studies and muscle biopsy showed serious acute illness myopathy with mild demyelination owing probably to the latent diabetes. The course of acute quadriplegia was fluctuating and correlated mainly with the activity of the systemic inflammatory response syndrome mechanisms. Myopathy might have been aggravated by using high-dose glucocorticoid therapy. The patient's general condition improved quickly as a result of full recovery from sepsis, discontinuation of glucocorticoids and normoglicaemia maintained by subcutan insulin substitution. Eight months after admission almost full neuromuscular restitution was achieved showing the reversibility of this grave illness.