Galloway syndrome

Classification according to ICD-10
Q04.3	Other reduction deformities of the brain
ICD-10 online (WHO version 2019)

The Galloway syndrome is a very rare congenital disease with a combination of microcephaly , hiatal hernia , and nephrotic syndrome .

The name refers to the first or the authors of the first description from 1968 by the British pediatricians WH Galloway and AP Mowat.

Synonyms are: Galloway-Mowat syndrome; GAMOS; Microcephaly - hiatal hernia - nephrotic syndrome; Nephrosis with abnormal neuronal migration; English Cerebellar Ataxia With Mental Retardation, Optic Atrophy, and Skin Abnormalities; CAMOS; Hershberger Syndromes; Nephrocerebellar syndromes; Nephrosis-microcephaly syndrome; Nephrosis-Neuronal Dysmigration Syndromes; Yor Dystonia

The disease was previously called Spinocerebellar Ataxia 5 (SCAR5).

distribution

The frequency is given as less than 1 in 1,000,000, so far more than 70 people have been reported. Inheritance is autosomal - recessive .

root cause

The disease are mutations in WDR73 - gene on chromosome 15 locus q25.2 basis.

Clinical manifestations

Clinical criteria are:

• Short stature even in utero
• Manifestation between newborn and childhood
• Nephrotic syndrome occurring in the first months of life
• Microcephaly, psychomotor retardation , seizures
• Facial dysmorphism with large, deeply attached auricles, micrognathia , microphthalmia , hypertelorism
• Hiatal hernia with early onset of vomiting
• Arachnodactyly , contractures
• Visual disturbances

diagnosis

In medical imaging , malformations of the brain such as gyration disorders , atrophy of the cerebral cortex , poreencephaly and neuronal migration disorders can be detected.

The renal biopsy results in minimal change disease , membranous glomerulonephritis (mesangial, focal segmental or diffuse mesangial).

literature

• C. Zeybek, G. Basbozkurt, S. Hamcan, A. Ozcan, D. Gul, F. Gok: Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. In: Case reports in nephrology. Vol. 2016, 2016, p. 4386291, doi: 10.1155 / 2016/4386291 , PMID 27403357 , PMC 4923528 (free full text).
• RO Rosti, E. Dikoglu, MS Zaki, G. Abdel-Salam, N. Makhseed, JC Sese, D. Musaev, B. Rosti, MJ Harbert, MC Jones, KK Vaux, JG Gleeson: Extending the mutation spectrum for Galloway- Mowat syndrome to include homozygous missense mutations in the WDR73 gene. In: American journal of medical genetics. Part A. Vol. 170A, No. 4, April 2016, pp. 992-998, doi: 10.1002 / ajmg.a.37533 , PMID 27001912 , PMC 5011457 (free full text).
• JJ Ekstrand, AL Friedman, CE Stafstrom: Galloway-Mowat syndrome: neurologic features in two sibling pairs. In: Pediatric neurology. Vol. 47, No. 2, August 2012, pp. 129-132, doi: 10.1016 / j.pediatrneurol.2012.04.011 , PMID 22759691 .

Individual evidence

1. ↑ ^{a b c d} Galloway syndrome. In: Orphanet (Rare Disease Database).
2. ^ WH Galloway, AP Mowat: Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs. In: Journal of medical genetics. Vol. 5, No. 4, December 1968, pp. 319-321, PMID 5713646 , PMC 1468664 (free full text)
3. ↑ ^{a b} Rare Diseases
4. ↑ ^{a b} Galloway-Mowat syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links

• Hereditary Ocular Disease

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !