ABSTRACT
ABSTRACT: A 6-year-old girl presented with complaints of absent horizontal eye movements since birth. There was also associated progressive scoliosis for past 1 year. Neuroimaging revealed split pons sign, butterfly-shaped medulla, and prominent inferior olivary nuclei. The presence of congenital horizontal gaze palsy, childhood onset progressive scoliosis, and abnormal neuroimaging findings confirmed the diagnosis of horizontal gaze palsy with progressive scoliosis. This case highlights the importance of neuroimaging in a child presenting with horizontal gaze palsy and scoliosis that helped for starting early rehabilitation of the child, prevention of permanent vision loss, and parental counseling for future pregnancies.
Subject(s)
Abnormalities, Multiple , Eye Movements/physiology , Ophthalmoplegia, Chronic Progressive External/diagnosis , Scoliosis/congenital , Strabismus/diagnosis , Child , Female , Humans , Magnetic Resonance Imaging , Medulla Oblongata/pathology , Ophthalmoplegia, Chronic Progressive External/congenital , Pons/pathology , Scoliosis/diagnosis , Strabismus/congenital , Strabismus/physiopathologyABSTRACT
OBJECTIVE: To characterize the disease-causing mutations and associated clinical phenotypes in 5 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). METHODS: Ophthalmic investigations included visual acuity, levator function, documentation of compensatory head position, ocular motility, and slitlamp and fundus examinations. The kinesin family member 21A gene (KIF21A) was sequenced for mutation detection. Genotyping and linkage analysis were performed for the KIF21A/FEOM1 and FEOM3 loci. RESULTS: Four families were clinically classified as having CFEOM type 1 (CFEOM1) with full expression of severe ptosis and ophthalmoplegia. One family had CFEOM type 3 (CFEOM3) with typically varying expression of phenotypes between individuals. Recurrent heterozygous KIF21A mutations were identified in 2 CFEOM1 families (2860C>T) and the CFEOM3 family (2861G>A). In another CFEOM1 family, a novel missense mutation (84C>G, C28W) was revealed. CONCLUSIONS: The novel KIF21A mutation 84C>G demonstrated in a CFEOM1 family affects the kinesin motor domain, supporting that mutations may also occur outside the commonly involved coiled-coil domain. The 2861G>A mutation found in a CFEOM3 family has been previously reported in CFEOM1, further supporting that different phenotypes can arise from identical mutations. Clinical Relevance Clinical and genetic characterization are complementary tools for diagnostic, prognostic, and treatment purposes in CFEOM.
Subject(s)
Blepharoptosis/genetics , Kinesins/genetics , Mutation, Missense , Nerve Tissue Proteins/genetics , Oculomotor Muscles/pathology , Ophthalmoplegia, Chronic Progressive External/genetics , Adolescent , Adult , Aged , Blepharoptosis/congenital , Child , DNA Mutational Analysis , Female , Fibrosis/congenital , Genetic Linkage , Genotype , Humans , Male , Middle Aged , Ophthalmoplegia, Chronic Progressive External/congenital , Pedigree , Phenotype , Polymerase Chain Reaction , RecurrenceABSTRACT
BACKGROUND: Chronic Progressive External Ophthalmoplegia (CPEO) encompasses different conditions having in common a slowly progressive external and general ophthalmoplegia. The discovery of CPEO is suggestive of mitochondrial cytopathy, but this is not necessarily so. CASE REPORT: We report here a case, presenting at age 9 months, characterized by bilateral blepharoptosis and partial third nerve oculomotor deficiency, with no nystagmus. Mitochondrial cytopathy was suspected on cranial MRI and confirmed by muscle biopsy. Enzyme studies revealed a defect on the complex I respiratory chain. This case is unique in that the symptoms completely resolved under a Ketogen diet.