Megalencephaly

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Classification according to ICD-10
Q04.5 Megalencephaly
ICD-10 online (WHO version 2019)

The Megalencephaly (from ancient Greek μέγας megas , megalo , German , tall ' and ancient Greek ἐγκέφαλος enképhalos , German , brain' ) is a very rare congenital change with an unusually large brain and skull ( macrocephaly ) without increased intracranial pressure .

Synonyms are: macroencephaly, familial; Macroencephaly; Cephalonia

The name was coined in 1900 by the English pathologist HM Fletcher.

The clinical picture was elaborated in 1972 by the US neurologist William Erl DeMyer (1924-2008).

In contrast to macrocephaly, the increase in head circumference is based on increased growth of the brain.

An enlargement that affects only one half of the brain (hemisphere) is called hemimegalencephaly , synonym: unilateral megalencephaly .

classification

A classification can typically be as

respectively.

Spread and cause

The frequency is not known; the male gender is affected more often in a ratio of 4: 1. In most cases, inheritance is autosomal dominant .

There is also an autosomal - recessive inherited form. This disease are mutations in TBC1D7 - gene on chromosome 6 locus p24.1 basis.

Clinical manifestations

Clinical criteria are:

  • Macrocephaly with head circumference in 2 thirds by 2 cm above the 98th percentile, in one third by 2–4 cm above
  • 80% abnormal head growth in the first 4 months of life
  • Body weight and length normal
  • in over 90% normal intelligence, neurology normal, no associated malformations
  • Age of onset before birth or in the neonatal period

There is a strong association with autism , but also with achondroplasia , Beckwith-Wiedemann syndrome , neurofibromatosis type 1 , tuberous sclerosis , Klippel-Trénaunay-Weber syndrome and epidermal nevus syndrome .

Differential diagnosis

Macrocephaly is to be distinguished. z. B. as a result of increased intracranial pressure.

In the context of syndromes

A megalencephalic can be the main symptom of various syndromes :

  • Megalencephalic Leukodystrophy
  • Megalencephaly Capillary Malformation Polymicrogyria Syndrome (MCAP) , synonyms: Megalencephaly Capillary Malformation Syndrome; Megalencephaly - Cutis Marmorata Telangiectatica Congenita; MCM; MCMTC; Macrocephaly - Cutis Marmorata Telangiectatica Congenita; Megalencephaly Capillary Malformation Syndrome
  • MPPH syndrome (megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome)
  • Megalencephaly-severe kyphoscoliosis-tall stature syndrome
  • Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome (PMSE)

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. ↑ Willibald Pschyrembel : Clinical Dictionary , 266th, updated edition, de Gruyter, Berlin 2014, ISBN 978-3-11-033997-0, keyword megalencephaly
  3. ↑ HM Fletcher: A Case of Megalencephaly . Vol. 51, 1900, London, Pathological Society of London, pp. 230-232.
  4. ↑ W. DeMyer: megalencephaly in children. Clinical syndromes, genetic patterns, and differential diagnosis from other causes of megalocephaly. In: Neurology. Volume 22, Number 6, June 1972, pp. 634-643, PMID 4673338 .
  5. ^ A b P. Pavone, AD Praticò, R. Rizzo, G. Corsello, M. Ruggieri, E. Parano, R. Falsaperla: A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. In: Medicine. Volume 96, number 26, June 2017, p. E6814, doi: 10.1097 / MD.0000000000006814 , PMID 28658095 , PMC 5500017 (free full text) (review).
  6. ↑ Hemimegalencephaly. In: Orphanet (Rare Disease Database).
  7. ↑ Megalencephaly, autosomal dominant.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ Macrocephaly / megalencephaly syndrome, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)
  9. ↑ CW Nordahl, N. Lange u. a .: Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders. In: Proceedings of the National Academy of Sciences. 108, 2011, p. 20195, doi: 10.1073 / pnas.1107560108 .
  10. ↑ E. Redcay, E. Courchesne: When is the brain enlarged in autism? A meta-analysis of all brain size reports. In: Biological psychiatry. Volume 58, Number 1, July 2005, pp. 1-9, doi: 10.1016 / j.biopsych.2005.03.026 , PMID 15935993
  11. ↑ Megalencephaly-capillary malformations-polymicrogyria syndrome. In: Orphanet (Rare Disease Database).
  12. ↑ Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome. In: Orphanet (Rare Disease Database).
  13. ↑ Megalencephaly-severe kyphoscoliosis-tall stature syndrome. In: Orphanet (Rare Disease Database).
  14. ↑ Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome. In: Orphanet (Rare Disease Database).

literature

  • J. Lorber, BL Priestley: Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. In: Developmental medicine and child neurology. Volume 23, Number 4, August 1981, pp. 494-504, PMID 7274594 .