Case Reports A Varlet of F yama Cong Musoflar Dystrophy in a Non-Japanese CMI'd Michael H. Kohrman*t, Daniel L. Picchietd§, Robert Wollmann**, and Ewa E. Chelmicka-Schotr*t We report a case of Fukuyama congenital muscular dystrophy with ~ t o r y infiltrate on muscle biopsy in an American girl of non-Japanese ancestry. The child was hypotonic, had decreased muscle strength in all extremities, and poor head control. Her mental and motor development were delayed. She developed generalized seizures at 19 months of age. Her musck, enzymes were abnormal; cranial computed tomography demonstrated hypoplasia of the cerebellum. Electromyogram was normal. Deltoid muscle biopsy documented scattered bamphitic regenerating myofibets and focal atrophic fibers with focal increases of endomysial connective tissue, endomysial foci of infhmm~tory cells, and occasional perimysial, perivenular lymphocytic infiltrates. Ptednisone therapy produced some decrease in serum muscle enzyme levels. Kohrman MH, Picchietti DL, Wollmann R, Chelmicka- Schorr EE. A variant of Fukuyama congenital muscular dystrophy in a non-Japanese child. Pediatr Neurol 1986;2:290-3. Introduction Fukuyama [1] described a syndrome of congenital muscular dystrophy, with mental retardation and seizures in 1960, later termed Fukuyama congenital muscular dystrophy (FCMD). The syndrome is characterized by early onset, diffuse muscle weakness and wasting, hypotonia in early infancy with later development of joint contractures, and delay in mental development. Approximately half of the patients have convulsions. Electromyogram (EMG) and muscle biopsy changes are characteristic of a myopathy. Serum CK level is always high [2]. Although the incidence m Japan is 1:18,000, this form of congenital muscular dystrophy is extremely rare outside of Japan [3-12]. Fukuyama suggested an autosomal recessive inheritance, but pathologic studies suggest an in- trauterine infection as a possible etiology [7]. We report a non-Japanese, American infant with an inflammatory form of FCMD. Case Report This black infant was the term product of a 20-year-old G1 PO Ab0 mother. The birth weight was 2,840 gm. The pregnancy and delivery were normal. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. Head circumference was 33 cm. Her motor development was delayed; she rolled over at 1 month of age, crawled at 12 months of age, and was able to pull to a stand and to sit unsupported at 17 months of age. At age 19 months she had a generalized seizure associated with a fever. Phenobarbital therapy was begun. At 16 months of age Receptive-Expressive Emergent Language Scale testing demonstrated receptive language at the 8 month level and expressive language at the 8-9 month level. The Mental Scale of the Bayley Scales of Infant Development administered at 16 months of age revealed a 9 month level of mental functioning. The Peabody Gross Motor Development Test also performed at 16 months of age was at a 9 month level and fine motor assessment was at an 8 month level. The family history was unremarkable. The patient's mother is black and the father is white. Physical examination at 19 months of age revealed a head cir- cumference 44.2 cm (2nd percentile), height 81 cm (25th percentile), weight 8.8 kg (< 2nd percentile), temperature 37.2" C. pulse 125/min, respiration 13/min, and blood pressure 88/54 mm Hg. She could speak two words, respond to her name, but could not point to body parts. Cranial nerves were normal except for myopathic facies. Muscle strength and tone were decreased in all extremities, proximal greater than distal. She had a negative tomc neck reflex, positive neck-fighting reflex, and absent parachute response. Head control was fair. Deep tendon reflexes were 1 + throughout Plantar responses were flexor. She had difficulty fitting and her balance was poor. She could not stand unsupported. Her attempts at grasping objects had a dysmetric quality. She did not have a pincer grasp. Laboratory findings included: CK 3,065 IU (normal: 0-150), LDH 455 IU (normal: 0-255), SGPT 88 IU (normal: 0-35), SGOT 117 IU (normal: 0-35), aldolase 17.4 IU (normal: 0-3), CRP 0.4, ANA < 1:50, and C4 10.4 (normal: 12-40). Electrocardiogram (EKG) documented a sinus tachycardia. Cardiac ultrasound revealed no evidence of cardiomyopathy. Electroencephalogram (EEG) demon- strated frequent spikes emanating from the right central regions. Computed tomography (CT) scan showed mild hypoplasia of the cerebellum. Motor and sensory nerve conduction velocities were normal. Two separate EMG examinations of the deltoid, mceps, biceps, and rectus femorus were normal. Karyotype was normal. Cerebrospinal fluid (CSF) examination revealed: protein 10 mg/dl. glucose 71 mg/dl, and 1 lymphocyte/ram 3. Right deltoid muscle biopsy demonstrated atrophic fibers, scat- tered regenerating fibers with prominent nucleoli, areas of degenerating fibers with focal increases of endomysial connective tissue, and increased numbers of centrally located sarcolemmal nuclei (Fig 1,2). Endomysial and occasional perimysial lymphocytic in- From the Departments of *Neurology, tPediatrics, and ~Pathoiogy; The University of Chicago Medical Center and The Brain Research Institute; Chicago, Illinois; and ~Tarle Clinic; Urbana, Illinois. Presented in part at the Child Neurology Society Meeting, Memphis, TN, October 10-12, 1985. Communications should be addressed to: Dr. Chelmicka-Schorr; Department of Neurology, Box 425; University of Chicago; 5841 South Maryland Avenue; Chicago, IL 60637. Received May 14, 1986; accepted June 11, 1986. 290 PEDIATRIC NEUROLOGY Voi. 2 No. 5