Oculo-dento-digital Dysplasia Presenting as Spastic Paraparesis Which Was Successfully Treated by Intrathecal Baclofen Therapy.

Abstract

A 42-year-old man with a history of migraine and bilateral syndactyly presented with numbness of the extremities and shaking legs, which thus prevented him from working as a carpenter. A neurological examination revealed spastic paraparesis with pathological reflexes on all four extremities. Oculo-dento-digital dysplasia (ODDD) was suspected based on his medical history and characteristic facial appearance including small eye slits, thin mouth, and pinched nose with anteverted nostrils. Genetic tests revealed a gap junction alpha 1 (GJA1) gene mutation and confirmed the diagnosis of ODDD. His spastic paraparesis was resistant to oral antispastic medication, however, his symptoms successfully improved after the initiation of intrathecal baclofen therapy, which thus allowed him to return to work.

• Authors: Akiko Shinya, Makoto Takahashi, Nozomu Sato, Yoichiro Nishida, Akira Inaba, Motoki Inaji, Takanori Yokota, Satoshi Orimo
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 60 Issue 14 Pg. 2301-2305 (Jul 15 2021) ISSN: 1349-7235 [Electronic] Japan
• PMID: 33612672 (Publication Type: Case Reports, Journal Article)

Chemical References

• Connexin 43
• Baclofen

Topics

• Abnormalities, Multiple
• Adult
• Baclofen (therapeutic use)
• Connexin 43
• Craniofacial Abnormalities
• Eye Abnormalities
• Foot Deformities, Congenital
• Humans
• Male
• Paraparesis, Spastic (drug therapy)
• Syndactyly
• Tooth Abnormalities