Dataset Information

Long-Term Follow-Up of Hypoglossia-Hypodactylia Syndrome: A Case Report.

ABSTRACT: Hypoglossia-hypodactylia syndrome is an extremely rare congenital anomaly characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs, with a risk of dysarthria and dysphagia. We report the articulation function and the swallowing function of a patient with hypoglossia-hypodactylia syndrome who was followed up to eight years old. Our patient did not have feeding and swallowing disturbances. She did not have articulatory disturbance, including /t/ and /r/, of the sound articulated using a proglossis. In the future, it is necessary to have a plastic operation for abnormal adhesion of the lower lip and mandibular gingiva and depression on the lower lip, and distraction osteogenesis for micrognathia. Also, it will be necessary to continuously monitor for an articulatory disturbance until the child uses more words. Therefore, a long-term intervention with a multidisciplinary approach is necessary.

SUBMITTER: Umeda H

PROVIDER: S-EPMC10393527 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Long-Term Follow-Up of Hypoglossia-Hypodactylia Syndrome: A Case Report.

Umeda Hirotsugu H Shiraishi Mami M Mishima Katsuaki K

Cureus 20230702 7

Hypoglossia-hypodactylia syndrome is an extremely rare congenital anomaly characterized by a hypoplastic mandible, absence of the lower incisors, hypoglossia, and a variable degree of absence of the digits and limbs, with a risk of dysarthria and dysphagia. We report the articulation function and the swallowing function of a patient with hypoglossia-hypodactylia syndrome who was followed up to eight years old. Our patient did not have feeding and swallowing disturbances. She did not have articul ...[more]

PMID: 37533607

Similar Datasets

Project description:BackgroundSjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has yet to be reported.Case presentationWe describe a young woman with spastic diplegia and intellectual disability who began to show progressive neurological deterioration from 12 years of age, with the onset of dystonia and tremor. She was initially diagnosed with spastic cerebral palsy and periventricular leukomalacia based on brain magnetic resonance imaging. Follow-up brain imaging from 13 years of age did not reveal apparent changes, though abnormal electroencephalographic findings occurred in parallel with her decline in motor function. By 19 years of age, she had developed dysphagia and became completely dependent on others for most activities of daily living. Ultimately, whole-exome sequencing revealed a heterozygous compound mutation in the ALDH3A2 gene that corresponds to Sjogren-Larsson syndrome: an exon 9 deletion (1291-1292delAA) from the mother and an exon 5 splicing mutation (798 + 1delG) from the father. Neuroregression has been reported in preschool children after seizures requiring treatment, though our patient did not experience any immediate causal events. This report summarizes the clinical, radiologic, and electrophysiological findings observed over a decade concurrent with neurological deterioration after the onset of dystonia and tremor at the age of developmental ceiling in Sjogren-Larsson syndrome.ConclusionsIn addition to the influence of additive variants or other environmental factors, accumulation of metabolites due to defective fatty aldehyde dehydrogenase is a potential pathomechanism of neurodegeneration in this patient. Neurological deterioration may be a presentation that is unnoticed in Sjogren-Larsson syndrome due to the rarity of the disease. This report highlights a unique clinical feature of Sjogren-Larsson syndrome with progressive neurodegeneration associated with dystonia and tremor.

Dataset Information

Long-Term Follow-Up of Hypoglossia-Hypodactylia Syndrome: A Case Report.

Publications

Long-Term Follow-Up of Hypoglossia-Hypodactylia Syndrome: A Case Report.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets