Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?

We report eight-year-old triplet girls whose clinical features included microcephaly, severe mental retardation, hypoplasia of distal phalanges of both fifth and second fingers and nail hypoplasia on second fingers, dysmorphic facial features, and partial corpus callosum agenesis. During infancy, a Pavlik harness was used for congenital hip dislocation, and they had difficulty in feeding. One had been operated for patent ductus arteriosus. To our knowledge, this rare combination has not been previously reported in triplets whose clinical features closely resemble those of Coffin-Siris syndrome. The other diagnostic possibilities are also reviewed

Comparison of Hippocampal Volume Measured Using Magnetic Resonance Imaging in Alzheimer's Disease, Vascular Dementia, Mild Cognitive Impairment and Pseudodementia

OBJECTIVE: To examine the relationship between different types of dementia and hippocampal volume. METHODS: Hippocampal volume was measured by magnetic resonance imaging in patients with Alzheimer's disease ( n = 22), vascular dementia ( n = 14), mild cognitive impairment ( n = 12) or pseudodementia ( n = 16), and in healthy control subjects ( n = 11). The Mini Mental State Examination was used to stratify subjects according to cognitive function. RESULTS: Hippocampal volume was reduced by 42% in Alzheimer's disease, 21% in vascular dementia, 15% in mild cognitive impairment and 13% in pseudodementia compared with controls. The severity of dementia increased in line with decreasing hippocampal volume. CONCLUSIONS: Measurement of hippocampal volume may facilitate differentiation between dementia subtypes. There was a relationship between reduced hippocampal volume and the degree of cognitive impairment. </jats:p

Gangliocytic paraganglioma of the cauda equina with significant calcification: First description in pediatric age

A 17-year-old boy was referred with a 2-month history of low back pain and bilateral sciatica and difficulty in ambulation. Neurological examination found mild muscle weakness and diminished deep tendon reflexes in his right leg. Lumbar magnetic resonance imaging revealed an intradural-extramedullary tumor at the level of the L4, exiting through the right L4-L5 intervertebral foramen into the right psoas muscle. After total resection of the tumor, histopathological diagnosis revealed a gangliocytic paraganglioma. There are 184 paraganglioma cases reported at the lumbar region to date, and only 4 of them were in the pediatric age group. This report is the fifth paraganglioma case in the lumbar region and the first gangliocytic paraganglioma case in the pediatric age population