Allan-Herndon-Dudley syndrome

Allan–Herndon–Dudley syndrome is a rare genetic disorder caused by a likely pathogenic variant of SLC16A2. It is characterized by generalized hypotonia, attacks of severe generalized dystonia and dysconjugate eye movements, and abnormalities of thyroid tests, except dysmorphisms and cerebral white matter abnormalities.From: Hankey's Clinical Neurology [2020], Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population [2023]

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Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020

Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson

Blood: Acanthocytes: NAc, PKAN.Serum ceruloplasmin: WD.Thyroid function: Allan–Herndon–Dudley syndrome.Serum ferritin: NF.Alpha-fetoprotein, albumin, cholesterol, immunoglobulins: AT, AOA1, AOA2.Plasma amino acids: AA.White cell enzymes: GM1, GM2, MLD.

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population

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Published in International Journal of Neuroscience, 2023

Dilsad Turkdogan, Ayberk Turkyilmaz, Gunes Sager, Gulten Ozturk, Olcay Unver, Merve Say

Patient #8 with a de novo likely pathogenic variant of SLC16A2 associated with Allan-Herndon-Dudley syndrome (OMIM: #300523) shared reported features, including generalized hypotonia, attacks of severe generalized dystonia and dysconjugate eye movements, and abnormalities of thyroid tests, except dsymorphisms and cerebral white matter abnormalities. The posture abnormality and eye movements dramatically resolved after pyridoxal phosphate treatment. Epilepsy/EIEE has not been reported in Allan-Herndon-Dudley syndrome so far. The present case also had maternal monoallelic variant of DMN1 associated with EIEE 31 (OMIM: #616346). This novel variant was described as likely pathogenic by ACMG criteria and disease causing or damaging by prediction tools. Although we are unaware of data on penetrance rate of DMN1, the possible effect of the variant on epilepsy phenotype could not be completely eliminated.

Allan-Herndon-Dudley syndrome

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Hyperkinetic Movement Disorders

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population