MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.

BACKGROUND: The classic rhizomelic chondrodysplasia punctata (RCDP) phenotype involves a typical facial appearance, cataracts, skeletal dysplasia causing disproportionate somatic growth failure, microcephaly, and severe psychomotor defects. Biochemical abnormalities include impaired plasmalogen biosynthesis in all forms of RCDP and accumulation of phytanic acid in RCDP type 1. A subset of patients has a milder clinical and biochemical phenotype, with less severe neurologic impairment and an incomplete deficiency in plasmalogens. The impact of plasmalogen deficiency on neurologic function is severe, causing spasticity and mental defects, but its pathomechanism is still unknown. The authors specifically focused on myelination because myelin is rich in ethanolamine plasmalogens. OBJECTIVE: To define the neuroimaging characteristics of the genetic peroxisomal disorder RCDP. METHODS: Twenty-one MR images of the brain and cervical spine of 11 patients were evaluated and correlated with neurologic and biochemical profiles. RESULTS: No abnormalities on MRI were seen in the patients with a mild phenotype of RCDP, whereas delayed myelination, ventricular enlargement and increased subarachnoidal spaces, supratentorial myelin abnormalities, and cerebellar atrophy were observed in patients with the severe phenotype of both RCDP type 1 and 3. The severity of both the MRI abnormalities and the clinical phenotype is correlated with the plasmalogen level. CONCLUSIONS: The severe phenotype of rhizomelic chondrodysplasia punctata (RCDP) is accompanied by a specific pattern of both developmental and regressive MRI abnormalities. Plasmalogen levels seem to play an important role in the pathophysiology of CNS abnormalities in RCDP. Increased phytanic acid appears not to be the cause of cerebellar atrophy.

[Diagnostic image (163). A mentally retarded girl with progressive vomiting. Trichobezoar]. / Diagnose in beeld (163). Een verstandelijk gehandicapt meisje met progressief braken. Trichobezoar.

An 11-year-old girl presented with progressive vomiting and weight loss. Physical examination revealed a large mass in the upper abdomen due to a large trichobezoar in the stomach.

[Spondylodiscitis in 3 children; differential diagnosis and treatment]. / (Spondylo)discitis bij 3 kinderen; differentiaaldiagnose en behandeling.

Three children, a 4.5-year-old boy and two girls aged 21 months and 10 years respectively, had for several weeks to months experienced lower back pain or walking problems, two of them had an elevated sedimentation and leucocytosis. The MRI scan revealed a narrowing of the lumbal disk. Furthermore, in the case of the 10-year-old girl, Staphylococcus lugdunensis was cultured from the puncture material of the disk. After treatment she continued to experience intermittent complaints of back pain; the other children made a complete recovery. (Spondylo)discitis must be differentiated from vertebral osteomyelitis. In the case of (spondylo)discitis, immobilising the spine with a corset is the mainstay of treatment. Antibiotics are only indicated when osteomyelitis cannot be excluded. Generally, the prognosis is good.

[Chorea subsequent to acute rheumatic fever in a 9-year-old girl]. / Chorea op basis van acuut reuma bij een 9-jarig meisje.

A nine-year-old girl had acute choreatic symptoms in her face and limbs, after a throat infection 6 weeks previously. On auscultation of the heart a systolic murmur was found and echocardiography showed mitral valve incompetence. There was a positive anti-deoxyribonuclease B titre in the serum, providing evidence of a previously contracted streptococcal infection. Both chorea and acquired carditis are major criteria for the diagnosis of acute rheumatic fever. The course was characterized--as it usually is--by spontaneous, gradual resolution of the symptoms. Protracted penicillin prophylaxis is indicated to prevent recurrence of acute rheumatic fever and cardiac valvular damage.