Joubert syndrome is a rare genetic neurologic disorder associated with hypoplasia or absence of the cerebellar vermis. The classic form is characterized by ataxia, hypotonia, eye movement abnormalities, developmental delay, and abnormal breathing patterns. In contrast, other patients have the additional feature of kidney cysts. This population could represent a distinct form of Joubert syndrome. One case of Joubert syndrome with subcortical neuroepithelial cysts was recently described. We report a new case of Joubert syndrome with overlapping features, including diffuse progressive central nervous system neuroepithelial cysts and kidney cysts. Our data suggest that neuroepithelial cysts occur in conjunction with Joubert syndrome associated with kidney cysts.

Brain Diseases↗

PubMed2003

Occult epiphyseal bone abscess: lessons for the unwary.

Two male children presented with increasing pain in the right knee and constitutional symptoms. Biochemical markers of inflammation were elevated. Plain radiography was reported as normal and bone scintigraphy was consistent with synovitis of the right knee in the first case. The second child underwent aspiration of the knee with drainage of turbid fluid 1 week after antibiotics. Slow response to therapy led to MRI and CT scanning in the second child, revealing an epiphyseal abscess. Review of the scintigraphic studies in the first child raised the possibility of osteomyelitis of the distal right femur. Further imaging was undertaken with MRI and CT scanning confirming an epiphyseal bone abscess. Failure of diagnosis of an epiphyseal bone abscess by combined plain radiography and scintigraphy has not previously been reported and provides a number of valuable lessons.

Abscess↗

PubMed2002

Gillies forceps diathermy burns.

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Burns↗

PubMedDate not supplied

Distinguishing scintigraphic features of spondylolysis.

A scintigraphic pattern of increased uptake was observed in the pedicles of the affected segment and a triangular pattern of uptake in the sagittal projection of tomographic studies of pars fractures. It was hypothesised that these observations were specific for pars fractures. A retrospective study of 25 young athletes (age 9-16 years) with a variety of spinal disorders was undertaken. Back pain was present for an average of 4 months. Diagnosis was confirmed by radiologic studies and/or response to treatment. All 15 children with spondylolysis had evidence of increased uptake in the ipsilateral or contralateral pedicle. None of the other causes of back pain showed this pattern. A specific triangular pattern of uptake was seen in the sagittal view in these patients. The authors describe two unique features of spondylolysis that add to the confidence with which the scintigraphic diagnosis may be made.

Adolescent↗