A previously healthy 9-month-old girl, obese (12,500 gm) with sudden onset of hyperthermia (40 degrees C), generalized tonic-clonic seizures, followed by focal seizures, drowsiness, left facial nerve palsy, left lagophthalmos and mydriasis is presented. CT-scan and MRI suggested temporal-parietal infarction due to Sylvian artery occlusion in a 9-month-old infant with familial hypercholesterolemia (type 2 A dyslipidemia). The possibility of a cerebral abscess or herpetic encephalitis was considered. Negative clinic and serologic results excluded this diagnosis. The management of the symptomatology was made with parenteral antibiotics, anticonvulsive and antioedematous cerebral therapy. Favourable evolution with residual left hemiparesis after 30 days, when the child was discharged. CT-scan reevaluation (after 5 months of evolution) showed a hypodense temporal-parietal area abnormality due to a right ischemic infarction.

Acute Disease↗

PubMedDate not supplied

Infantile spinal amylotrophy Werding-Hoffman disease and congenital contractures.

The authors present a rare case of a male infant aged 5 1/2 months with muscular contractures, hypotonia and areflexia. Two male siblings died with the same clinical picture. The microscopic findings of several spinal cord specimens are typical for Werding-Hoffman amylotrophia spinalis. The microscopical aspects are suggestive for neurogenic atrophy of muscular fibres with interstitial myositic process. It is proposed to include the present case in X-linked form of infantile spinal muscular atrophy.

Contracture↗