Nasu Hakola disease

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Classification according to ICD-10
E75.2 Other sphingolipidoses
ICD-10 online (WHO version 2019)

The Nasu-Hakola disease ( Nasu-Hakola syndrome; NHD ) is a very rare, to the leukodystrophies and lipodystrophy associated congenital disease with the main features of a progressive dementia with degeneration of nerve and systemic fat and polycystic osteodysplasia .

Synonyms are:

  • Dementia, progressive and polycystic osteodysplasia;
  • PLOSL, acronym for P olyzystische L ipomembranöse O steodysplasie with S klerotischer L eukoenzephalopathie or PLOSL
  • Osteodysplasia, lipomembranous polycystic - sclerosing leukoencephalopathy
  • Järvi-Hakika-Nasu syndrome
  • Järvi-Hakola-Nasu syndrome
  • English PRESENILE DEMENTIA WITH BONE CYSTS; DEMENTIA, PREFRONTAL, WITH BONE CYSTS; DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA; BRAIN-BONE-FAT DISEASE

The names refer to the first authors of descriptions from 1970 by the Finnish neurologist H. PA Hakola and his colleague OH Järvi and in 1973 by the Japanese pathologist T. Nasu .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

Most of the more than 200 patients described come from Japan or Finland.

root cause

The disease is based on mutations in the TREM2 gene at location 6p21.1 or in the TYROBP gene at 19q13.12, which code for the tyrosine kinase-binding adapter protein or the associated receptor.

Clinical manifestations

Clinical criteria are:

  • Normal development during childhood
  • Onset of the disease at the latest in young adulthood with pain in the hands, wrists, ankles and feet, tendency to fracture due to the bone changes
  • Personality changes ( frontal lobe syndrome), progressive memory disorders, generalized epileptic seizures , pyramidal signs
  • progressive dementia from the 4th or 5th decade of life

diagnosis

The diagnosis is based on the clinical findings and the results of the radiological examinations. Imaging in the X-ray image shows a symmetrical cyst formation, sometimes with swelling of the metaphyses of long bones, carpal and tarsal bones, in computed tomography or in magnetic resonance tomography signs of cortical atrophy and calcifications of the basal ganglia .

Differential diagnosis

Radiologically, fibrous dysplasia can be differentiated clinically from Alzheimer's disease , and also CARASIL .

pathology

Histologically, there is a membrane-cystic transformation of the systemic adipose tissue, and a sclerosing leukodystrophy with frontotemporal demyelination in the central nervous system .

history

Details of who first described this disease and when can be found in a report by M. Kaneko et al .

literature

  • B. Lorch, K. Henkel, H. Schaab, W. Aurnhammer, T. Becker: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. In: The neurologist. Vol. 77, No. 1, January 2006, pp. 85-90, doi: 10.1007 / s00115-005-1953-2 , PMID 15986257 .
  • HP Hakola, AW Eriksson: High rate of twins among offspring of mothers with the Järvi-Hakola-Nasu disease and with comments on disorders associated with twinning. In: Acta geneticae medicae et gemellologiae. Vol. 46, No. 1, 1997, pp. 37-46, PMID 9298157 .

Individual evidence

  1. ↑ a b c d Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c d Nasu-Hakola disease. In: Orphanet (Rare Disease Database).
  3. ↑ HP Hakola, OH Järvi, P. Sourander: Osteodysplasia polycystica hereditaria combined with sclerosing leucoencephalopathy, a new entity of the dementia praesenilis group. In: Acta Neurologica Scandinavica. Vol. 46, 1970, S. Suppl 43: 79+, PMID 5457864 .
  4. ↑ T. Nasu, Y. Tsukahara, K. Terayama: A lipid metabolic disease- "membranous lipodystrophy" -an autopsy case demonstrating numerous peculiar membrane-structures composed of compound lipid in bone and bone marrow and various adipose tissues. In: Acta pathologica japonica. Vol. 23, No. 3, August 1973, pp. 539-558, PMID 4800725 .
  5. ↑ PLOSL.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ M. Kaneko, K. Sano, J. Nakayama, N. Amano: Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of the Japanese Society of Neuropathology. In: Neuropathology: official journal of the Japanese Society of Neuropathology. Vol. 30, No. 5, October 2010, pp. 463-470, doi: 10.1111 / j.1440-1789.2010.01127.x , PMID 20500450 .

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