[Dr.Vad]

Лейкодистрофии ортохроматического (не метахроматического) типа (суданофильный тип липидного катаболизма) чаще встречаются в детском возрасте: большинство случаев спорадические, но были описаны и аутосомно-доминантные типы наследования, связанные с хромосомой 5q31. Отягощенная наследственность может проявляться деменцией, мозжечковыми, пирамидными нарушениями, автономной нервной системы; нарушениями, напоминающими множественный (рассеяный) склероз.

Ист. знаний:
J Neurol Neurosurg Psychiatry. 2003 May;74(5):671-3.
Two clinicopathological cases of a dominantly inherited, adult onset orthochromatic leucodystrophy.
Letournel F, Etcharry-Bouyx F, Verny C, Barthelaix A, Dubas F.
Cell Biology Laboratory, CHU, 49033 Angers, France. Department of Neurology, CHU, 49033 Angers, France.

О пренатальном диагнозе здесь (без перевода):

Brain Pathol. 1998 Jan;8(1):133-49.
Prenatal diagnosis of lysosomal storage diseases.
Lake BD, Young EP, Winchester BG.
Department of Histopathology, Great Ormond Street Hospital for Children, London, UK. [Ссылки доступны только зарегистрированным пользователям ]
The prenatal diagnosis of lysosomal storage disorders can be achieved, once the diagnosis is confirmed in the index case, by a variety of techniques including analysis of amniotic fluid, asay of enzymic activity in cultured amniotic fluid cells, cultured chorionic villus cells and by direct assay of activity in chorionic villus samples. These studies can be accompanied by ultrastructural observations which give an independent means of diagnosis. In some instances molecular genetic studies for mutation detection or linkage analysis are appropriate for prenatal diagnosis. Pseudodeficiencies of some of the lysosomal enzymes, which cause no clinical problems, can complicate the initial diagnosis particularly in metachromatic leucodystrophy where the pseudodeficiency is more common than the disease itself. Mutation analysis as well as enzyme assay is necessary not only in the index case but also in the parents before the same techniques are applied to a sample for prenatal diagnosis. A large number of lysosomal storage disorders may present as fetal hydrops and the diagnosis can be established at this late stage by fetal blood sampling and examination by microscopy as well as by biochemical assay of the appropriate enzyme or metabolite in amniotic fluid. All prenatal diagnoses in which an affected fetus is indicated should have confirmation of the diagnosis as soon as possible to reassure anxious parents, and to act as audit of the laboratory's competence to undertake prenatal diagnosis. A combined approach to prenatal diagnosis involving biochemical, molecular genetic and morphological studies is recommended.