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Spinal muscular atrophy, Dandy-Walker complex, and cataracts in two siblings: a new entity?
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  1. M Panas1,
  2. K Spengos1,
  3. G Tsivgoulis1,
  4. N Kalfakis1,
  5. C Sfagos1,
  6. D Vassilopoulos1,
  7. N Markomichelakis2
  1. 1Department of Neurology, Eginition Hospital, University of Athens, Greece
  2. 2Department of Ophthalmology, Georgios Gennimatas General Hospital, Athens, Greece
  1. Correspondence to:
 Dr M Panas
 Eginition Hospital, Neurogenetics Unit, Department of Neurology, University of Athens, 74 Vas. Sofias Avenue, Athens 11528, Greece; mpanasmed.uoa.gr

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Lower motor neurone involvement is the main feature of several neurological disorders, including the various forms of spinal muscular atrophy (SMA). A distinct form of SMA is characterised by predominantly distal weakness and atrophy of the limbs.1 Various combinations of SMA with neural and extraneural defects, mainly pontocerebellar hypoplasia, have also been reported.2

We report a combination of distal SMA with Dandy-Walker complex and anterior polar cataracts in two brothers.

The patients were aged 25 and 23 years. Their parents, who originated from the same area of Greece, were unrelated and asymptomatic. Since the age of 10 years, both brothers presented with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs, which affected mainly the anterior tibialis and peroneal muscles and, to a lesser degree, the gastrocnemius, resulting in an almost “stoke-like” appearance of the legs. Bilateral anterior polar cataracts had been diagnosed in both patients at the age of 9–11 months. Additional findings of the neurological examination in both patients were slight muscle …

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