Ophthalmic genetics · 2022
AAMR syndrome in a 22-month-old and literature review.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Oet Mark A, Brahma Venkatesh, McGrath James, Galvin Jennifer A
Аннотация
PURPOSE: Alacrima is characterized by severely decreased or deficient tear production. It can be associated with systemic findings; most commonly Triple-A Syndrome with alacrima, achalasia, and adrenal dysfunction.
METHODS: A case report and review of the literature.
RESULTS: A 22-month-old boy with cognitive delay presented with a lack of tearing. MRI brain and orbits showed a bilateral absence of lacrimal glands. Biochemical testing revealed normal adrenal function. Genetic testing showed no abnormalities in the AAAS gene. Mutations in the AAAS gene are associated with Triple-A syndrome. Whole-exome sequencing did reveal compound heterozygosity for the GMPPA gene, and mutations in the GMPPA gene have been associated with AAMR syndrome with alacrima, achalasia, and mental retardation. A literature review revealed all AAMR syndrome patients with consanguineous parents. This is the first reported case of AAMR syndrome in non-consanguineous parents.
CONCLUSIONS: In children older than 6 months old with decreased or deficient tear production, systemic work-up should include radiographic, biochemical, and genetic testing. Conditions associated with alacrima include familial dysautonomia, anhidrotic ectodermal dysplasia, Triple-A syndrome, and AAMR syndrome. One key clinical difference between the two syndromes is that patients with normal adrenal function have AAMR syndrome rather than Triple-A syndrome. After a child has a diagnosis with alacrima, these patients should be evaluated closely by a pediatric multidisciplinary team. Treatment for alacrima depends on the severity of ocular symptoms and ranges from the use of lubricant tears and ointment to moisture chambers.
METHODS: A case report and review of the literature.
RESULTS: A 22-month-old boy with cognitive delay presented with a lack of tearing. MRI brain and orbits showed a bilateral absence of lacrimal glands. Biochemical testing revealed normal adrenal function. Genetic testing showed no abnormalities in the AAAS gene. Mutations in the AAAS gene are associated with Triple-A syndrome. Whole-exome sequencing did reveal compound heterozygosity for the GMPPA gene, and mutations in the GMPPA gene have been associated with AAMR syndrome with alacrima, achalasia, and mental retardation. A literature review revealed all AAMR syndrome patients with consanguineous parents. This is the first reported case of AAMR syndrome in non-consanguineous parents.
CONCLUSIONS: In children older than 6 months old with decreased or deficient tear production, systemic work-up should include radiographic, biochemical, and genetic testing. Conditions associated with alacrima include familial dysautonomia, anhidrotic ectodermal dysplasia, Triple-A syndrome, and AAMR syndrome. One key clinical difference between the two syndromes is that patients with normal adrenal function have AAMR syndrome rather than Triple-A syndrome. After a child has a diagnosis with alacrima, these patients should be evaluated closely by a pediatric multidisciplinary team. Treatment for alacrima depends on the severity of ocular symptoms and ranges from the use of lubricant tears and ointment to moisture chambers.