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Your daughter was stationed at Children's Hospital Gottfried von Preyer'schen between 1 and 3 February 2012 in order to clarify a hitherto undetected neurodegenerative diseases. analitika We have now all diagnoses, so that the meeting analitika could take place explicit analitika clarification of the diagnosis made.
After a thorough evaluation tomography MRT and after a consultation with Professor Dr. Eugen Boltshauser Children's analitika Hospital Zurich have concluded an infant neuroaxonala dystrophy (INAD) and I made requests for genetic analysis (gene PLA2G6). 12.03.2012 The report from the Department of Molecular Genetics at the University of Nijmegen testifies that diagnosis and shows an exon 04 deletion hemizygous analitika and heterozygous deletion of the exon 03 to 13. This report proved analitika suspected diagnosis (INAD - PLAG2G6 ), and all other diagnoses suspected cancel.
Infant neuroaxonala dystrophy (INAD) is a rare neurodegenerative disease analitika with a very difficult course, adding that the illness Ioana Diana falls in symptoms of this disease. There are no known therapeutic measures that could stop the development analitika of this disease. It is still very important to provide symptomatic therapy, children suffering from it dystrophy necessary. Diana Ioana needs this therapy: According analitika mother, Jane's biological rhythm is disturbed Diana. Although very tired tonight, can not sleep and is agitated throughout the night. Therefore we recommend a therapy with melatonin (Circadin 1 x 1 tablet in the evening, analitika 30 minutes analitika before bedtime). If Joan stirring Diana does not pass this medication, recommend a weaker dosed therapy with risperidone (Risperdal for example).
Medication with steroids (Medrol), date to March 2012, was halted. At the moment this therapy is no longer needed. Diana Ioana thrombocytopenia observed and narrated many times has no connection with the diagnosis and was not true blood analysis done to us.
Infant neuroaxonala dystrophy (INAD) is a rare neurological disease, inherited. It affects axons, the nerve cells that transmit part of impulses from the brain to the body. It causes progressive loss of vision, muscular control and mental capacities. Although the causes are not known genetic and metabolic basis, INAD is the result of abnormal assemblies of toxic substances analitika in the nerves that communicate with muscles, skin and connective tissues around the eyes. At about age 2 first symptoms, loss of control analitika of the head and ability to sit, to go crawling or walking, and vision deterioration and speech. Some children suffer from seizures. At birth children can present distinctive facial deformities, such as a prominent forehead, strabismus, a nose or jaw unusually small and big ears low.
Nas Nas small fiziomotorica regression delayed development, progressive weakness Weakness Signs instability gait ataxia hyper spastic quadriplegia pyramidal analitika tract (70%) Neurologic seizures mental analitika retardation, central nervous analitika system analitika involvement possible autonomy atrophy of the cerebellum cerebral atrophy Loss of neurons axonal dystrophy gliosis Swelling axonal swelling and axonal inclusions of esferoide EEG tense, very rhythmic T2 MRI shows cerebellar atrophy with hyperintense signs of cerebellar cortex increased iron deposits in the basal ganglia (4%) Easy optic chiasm Tranzmitere Neurol diminished analitika (30%) (NCV) The central peripheral axonal dystrophy EMG shows denervation chronic axonal swelling and thickening of esferoide axonal inclusions areflexia (30%) local abnormalities - Esferoide Characteristics can be found in peripheral tissues such as the skin and conjunctiva onset usually in childhood or starting age 2 delayed analitika onset usually possible death at the age of ca. 10 years Various - disease alleles tend to neurodegeneration with iron accumulation cranial 2B (NBIA2B, 610 217) similar to neurodegeneration pantothenic associated analitika kinase (PKAN, 234,200) Molecular Basis - phospholipase A2 Caused by mutation, the gene group VI (PLA2G6, 603604.0001)
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