Gillespie Syndrome

Classification according to ICD-10
G11.0	Congenital non-progressive ataxia
ICD-10 online (WHO version 2019)

The Gillespie syndrome is a very rare congenital disease with the main features of aniridia , cerebellar ataxia and mental retardation .

Synonyms are: aniridia-cerebellar ataxia-intellectual disability syndrome

The first description comes from the year 1965 by the American ophthalmologist Frederick D. Gillespie.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 30 people have been reported. There are different forms of inheritance. The syndrome is said to be present in around 2% of aniridia.

root cause

The disease are-at least in part - mutations in ITPR1 - gene on chromosome 3 locus based p26.1. The PAX6 gene on chromosome 11 locus p13 is said to be involved in isolated cases.

Clinical manifestations

Clinical criteria are:

partial aniridia on both sides with photophobia
Atrophy of the iris around the pupil
non-progressive cerebellar ataxia with severe dysarthria
pronounced intellectual disability
Auricular dysplasia
narrow slit-shaped eyelids
Flat foot
Hypotonia

Muscle reflexes , nerve conduction velocity and muscle biopsy are normal.

diagnosis

The diagnosis results from the ophthalmological examination u. a. with the slit lamp . Changes in the cerebellum , the brain stem or in the frontal lobe can be detected by imaging .

Differential diagnostics

The following are to be distinguished:

literature

D. De Silva, KA Williamson, KC Dayasiri, N. Suraweera, V. Quinters, H. Abeysekara, J. Wanigasinghe, D. De Silva, H. De Silva: Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features. In: BMC pediatrics. Volume 18, number 1, 09 2018, p. 308, doi: 10.1186 / s12887-018-1286-5 , PMID 30249237 , PMC 6154888 (free full text).
HN Hall, KA Williamson, DR FitzPatrick: The genetic architecture of aniridia and Gillespie syndrome. In: Human Genetics. Volume 138, Number 8-9, September 2019, pp. 881-898, doi: 10.1007 / s00439-018-1934-8 , PMID 30242502 (review).

Individual evidence

↑ ^a ^b ^c 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 .
↑ ^a ^b ^c ^d ^e aniridia-cerebellar ataxia-intellectual disability syndrome. In: Orphanet (Rare Disease Database).
↑ FD Gillespie: aniridia, cerebellar ataxia, And oligophrenia In Siblings. In: Archives of ophthalmology. Volume 73, March 1965, pp. 338-341, doi: 10.1001 / archopht.1965.00970030340008 , PMID 14246186 .
^ Genetics Home Reference
↑ Gillespie syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ M. Kieslich, K. Vanselow, G. Wildhardt, B. Gebhardt, R. Weis, H. Böhles: Current limits of molecular biological diagnostics in Gillespie syndrome. In: Clinical Pediatrics. Volume 213, Number 2, 2001 Mar-Apr, pp. 47-49, doi: 10.1055 / s-2001-12875 , PMID 11305191 .

[Leiber-1] 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 .

[Orpha-2] aniridia-cerebellar ataxia-intellectual disability syndrome. In: Orphanet (Rare Disease Database).

[3] FD Gillespie: aniridia, cerebellar ataxia, And oligophrenia In Siblings. In: Archives of ophthalmology. Volume 73, March 1965, pp. 338-341, doi: 10.1001 / archopht.1965.00970030340008 , PMID 14246186 .

[4] Genetics Home Reference

[5] Gillespie syndrome. In: Online Mendelian Inheritance in Man . (English)

[6] M. Kieslich, K. Vanselow, G. Wildhardt, B. Gebhardt, R. Weis, H. Böhles: Current limits of molecular biological diagnostics in Gillespie syndrome. In: Clinical Pediatrics. Volume 213, Number 2, 2001 Mar-Apr, pp. 47-49, doi: 10.1055 / s-2001-12875 , PMID 11305191 .