A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis. 2007

Nobuko Kanemoto, and Katsuyoshi Kanemoto, and Tomohiro Kamoda, and Makoto Hasegawa, and Tadao Arinami
Department of Pediatrics, Institute of Clinical Medical Sciences, University of Tsukuba, 2-1-1 Amakubo, Tsukuba, Ibaraki, 305-8576, Japan. nandkkanemoto@yahoo.co.jp

We describe a female infant with bilateral facial paralysis and abducens palsy. To the best of our knowledge, this is the first report of Moebius syndrome presenting with congenital bilateral vocal cord paralysis (CBVCP). Although CBVCP can be part of a recognizable syndrome, i.e. Down syndrome, 22q deletion syndrome, Robinow's syndrome and cerebro-oculo-facio-skeletal syndrome, no reports of Moebius syndrome with CBVCP were found in the literature. CBVCP is often associated with central nervous system abnormalities. However, our patient had no detectable brain abnormalities. The etiology of Moebius syndrome remains unknown. It is interesting that the clinical manifestations of Moebius syndrome can include CBVCP. However, the pathophysiology of CBVCP is unknown and further investigations into the etiology of Moebius syndrome are required.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007555 Isoxazoles Azoles with an OXYGEN and a NITROGEN next to each other at the 1,2 positions, in contrast to OXAZOLES that have nitrogens at the 1,3 positions. Isoxazole
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D011248 Pregnancy Complications Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases. Adverse Birth Outcomes,Complications, Pregnancy,Adverse Birth Outcome,Birth Outcome, Adverse,Complication, Pregnancy,Outcome, Adverse Birth,Pregnancy Complication
D004827 Epilepsy A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313) Aura,Awakening Epilepsy,Seizure Disorder,Epilepsy, Cryptogenic,Auras,Cryptogenic Epilepsies,Cryptogenic Epilepsy,Epilepsies,Epilepsies, Cryptogenic,Epilepsy, Awakening,Seizure Disorders
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000078305 Zonisamide A benzisoxazole and sulfonamide derivative that acts as a CALCIUM CHANNEL blocker. It is used primarily as an adjunctive antiepileptic agent for the treatment of PARTIAL SEIZURES, with or without secondary generalization. 3-Sulfamoylmethyl-1,2-benzisoxazole,AD 810,AD-810,CI 912,CI-912,Zonegran,Zonisamide Monosodium,3 Sulfamoylmethyl 1,2 benzisoxazole,AD810,CI912
D000927 Anticonvulsants Drugs used to prevent SEIZURES or reduce their severity. Anticonvulsant,Anticonvulsant Drug,Anticonvulsive Agent,Anticonvulsive Drug,Antiepileptic,Antiepileptic Agent,Antiepileptic Agents,Antiepileptic Drug,Anticonvulsant Drugs,Anticonvulsive Agents,Anticonvulsive Drugs,Antiepileptic Drugs,Antiepileptics,Agent, Anticonvulsive,Agent, Antiepileptic,Agents, Anticonvulsive,Agents, Antiepileptic,Drug, Anticonvulsant,Drug, Anticonvulsive,Drug, Antiepileptic,Drugs, Anticonvulsant,Drugs, Anticonvulsive,Drugs, Antiepileptic
D014826 Vocal Cord Paralysis Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA. Laryngeal Nerve Palsy, Recurrent,Laryngeal Paralysis,Acquired Vocal Cord Palsy,Bilateral Vocal Cord Paresis,Congenital Vocal Cord Palsy,Paralysis, Unilateral, Vocal Cord,Paralysis, Vocal Cord, Unilateral,Partial Paralysis (Paresis) Vocal Cords,Recurrent Laryngeal Nerve Palsy,Total Vocal Cord Paralysis,Unilateral Paralysis, Vocal Cord,Unilateral Vocal Cord Paralysis,Unilateral Vocal Cord Paresis,Vocal Cord Palsy,Vocal Cord Palsy, Congenital,Vocal Cord Paralysis, Unilateral,Vocal Cord Paresis,Vocal Fold Palsy,Laryngeal Paralyses,Palsies, Vocal Cord,Palsies, Vocal Fold,Palsy, Vocal Cord,Palsy, Vocal Fold,Paralyses, Laryngeal,Paralyses, Vocal Cord,Paralysis, Laryngeal,Paralysis, Vocal Cord,Pareses, Vocal Cord,Paresis, Vocal Cord,Vocal Cord Palsies,Vocal Cord Paralyses,Vocal Cord Pareses,Vocal Fold Palsies

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