Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G&gt;A (p.<scp>Arg233His</scp>) Mutation‐A Diagnostic Challenge

Panda, Samhita; Jain, Saksham; Dholakia, Dhwani; Uppilli, Bharath Ram; Faruq, Mohammed

doi:10.1002/mdc3.13522

Cited by 3 publications

(2 citation statements)

References 15 publications

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“…We compiled the summary from Dong et al, encompassing all TH deficiency cases reported through 2018 (Dong et al, 2020) and all Segawa patients published thereafter until 2023 (Atanasoska et al, 2023; Bijarnia‐Mahay et al, 2020; Champagne et al, 2022; Chen et al, 2020; Couto et al, 2019; Hou et al, 2019; Hull et al, 2021; Janssen et al, 2021; Kuseyri Hubschmann et al, 2021; Panda et al, 2022; Reyes et al, 2023; Wang et al, 2022). In total, we summarized the clinical phenotypes of all 175 reported Segawa cases.…”

Section: Case Presentationmentioning

confidence: 99%

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes

Zhang,

Huang,

et al. 2024

Intl J of Devlp Neuroscience

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Segawa syndrome is a rare autosomal recessive form of dopa‐responsive dystonia resulting from TH gene dysfunction. Patients typically exhibit symptoms such as generalized dystonia, rigidity, tremors, infantile Parkinsonism, and pseudo‐spastic paraplegia. Levodopa is often an effective treatment. Due to its rarity, high heterogeneity, and poorly understood pathological mutation and phenotype spectrums, as well as genotype–phenotype and genotype‐treatment outcome correlations, Segawa syndrome poses diagnostic and therapeutic challenges. In our study, through clinical and molecular analyses of three Chinese Segawa patients, we re‐evaluated the pathogenicity of a TH mutation (c.880G>C;p.G294R) previously categorized as “Conflicting classifications of pathogenicity” in ClinVar. Also, we summarized the clinical phenotypes of all reported Segawa syndrome cases until 2023 and compared them with our patients. We identified a novel phenotype, “cafe‐au‐lait macules,” not previously observed in Segawa patients. Additionally, we discussed the correlation between specific genotypes and phenotypes, as well as genotypes and treatment outcomes of our three cases. Our findings aim to enhance the understanding of Segawa syndrome, contributing to improved diagnosis and treatment approaches in the future.

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Section: Case Presentationmentioning

confidence: 99%

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes

Zhang,

Huang,

et al. 2024

Intl J of Devlp Neuroscience

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“…This is because patients with treatable DRD are difficult to follow-up over a long period without treatment after diagnosis. A similar case of DRD caused by TH deficiency, a 24-year-old man who manifested unusually prolonged dystonic episodes with relative interictal normalcy and not diurnal fluctuations, showed temporal variations over the years before diagnosis [ 7 ]. As in the case of the current patient’s daughter, lifelong variation in symptoms resulted in misdiagnosis as a somatization disorder for 22 years.…”

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confidence: 99%

A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity

Kim¹,

Ha²,

Yoo³

et al. 2023

JMD

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Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report

et al. 2023

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Background Tyrosine hydroxylase deficiency (THD) is a rare movement disorder with broad phenotypic expression caused by bi-allelic mutations in the TH gene, which encode for tyrosine hydroxylase (TH) protein. Some patients with THD have improvement in dystonia with carbidopa–levodopa, a synthetic form of dopamine typically used in Parkinson’s disease, and are considered to have dopa-responsive THD. THD has been found in 0.5–1 per million persons, although due to overlapping symptoms with other disorders and the need for genetic testing, prevalence is likely underestimated. Existing literature describes some patients with THD having intellectual disability, but comorbid autism spectrum disorder (ASD) has not been reported. Case presentation A nearly 3-year-old boy was referred to pediatric neurology due to hypotonia, delayed motor milestones, and expressive speech delay. Whole exome sequencing confirmed tyrosine hydroxylase deficiency, detecting a novel variant p.S307C first reported here. The child was treated with carbidopa–levodopa with an excellent response, resulting in improved balance, fewer falls, and improved ability to jump, run and climb stairs. He was determined to have dopa-responsive THD. Due to his delays in expressive speech, the boy also had an assessment with a developmental and behavioral pediatrician, who identified a pattern of social pragmatic speech delay, sensory sensitivities, and restricted interests, and determined that he met criteria for a diagnosis of ASD. Conclusions While ASD can stand alone as a clinical diagnosis, it is also a cardinal feature of other genetically-based neurological disorders. To our knowledge, this is the first case that describes a patient with both disorders. Perhaps THD may be among the genetic disorders linked with ASD.

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Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation‐A Diagnostic Challenge

Cited by 3 publications

References 15 publications

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes

Compound heterozygous mutations in three Chinese patients of Segawa syndrome and their treatment outcomes

A Novel Variant of GCH1 in Dopa-Responsive Dystonia With Oculogyric Crises and Intrafamilial Phenotypic Heterogeneity

Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report

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