[source]
pmid = PMID:28148925
title = A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome
[diagnosis]
disease_id = OMIM:600373
disease_label = CODAS syndrome
[text]
The proband is a 12-year-old male, born to healthy, non-consanguineous parents. He has one healthy brother. He was born by cesarean section due to placenta previa at 36 weeks of gestation.
No asphyxia was recorded. His birth weight, length and head circumference were 2324bg (−0.6 s.d.), 42.6 cm (−1.5 s.d.) and 32.5 cm (+0.3 s.d.), respectively.
Imperforate anus with rectovesical fistula and bilateral congenital cataracts were diagnosed at birth and were operated twice on at 1 day and 3 months, respectively.

He was referred to our hospital because of developmental delay at 10 months. Physical examination revealed short stature, hypotonia and spasticity of lower extremities.
No facial dimorphism, including microcornea, auricular or teeth deformities, was seen. At 1 year 6 months, he could crawl but could not sit alone nor speak coherent words.
At 2 years, he regressed and could not crawl. At 2 years 10 months, he presented with brief tonic seizures, which were controlled with valproate. Electric encephalogram
showed rare spikes. At 8 years, a gastrostomy was placed for progressive swallowing difficulties. At 9 years, he presented with intermittent choreoathetotic movement.
MRI performed at 10 months and 5 years showed progressive atrophy of the cerebellar cortex and caudate, with hyperintensity of the cerebellar cortex on T2-weighted images (Figures 1a–d).
He had normal serum creatine kinase, amino acid, lactate, pyruvate, tandem mass spectroscopy and karyotype. Nerve conduction time and brainstem auditory evoked potentials were also normal.
Skeletal radiography showed epiphyseal dysplasia on both knees (Figure 1e).
Brain MRI of the case. (a, b) Hyperintensity of the cerebellar cortex on T2-weighted images was visible at 10 months. (c,d)
Progressive atrophy of cerebellar cortex and caudate and hyperintensity of the cerebellar cortex on T2-weighted images was
seen at 5 years. (e) Skeletal radiography of the patient’s knees at 12 years. Epiphyseal dysplasia in both femoral metaphysis was seen.

