Schwartz jampel12/18/2023 In view of the age of onset in early infancy and the patient survived into adolescence, our patient diagnosis would best fit the SJS type 1B. Neonatal SJS (type 2), also known as Stuve-Wiedemann syndrome, is characterized by dysmorphism and muscle disorder in infancy, and is a more severe phenotype with genetically distinct mutation in the LIFR gene on chromosome 5p13. Type 1A is usually recognized in childhood and exhibits only moderate bone dysplasia, and type 1B is similar to 1A but manifests at birth with more prominent bone dysplasia, while type 2 is the most severe and uncommon form with extremely high mortality in the neonatal period. Giedion et al., classified SJS in three types. SJS was first described in a brother and sister with myotonic myopathy and blepharophimosis. Electromyography revealed continuous myotonic discharges at rest with no waxing and waning in all tested muscles of upper and lower limbs. Bone X-ray revealed pseudofracture of humerus. On neurological examination, there was proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. He also had a short stature for age and several skeletal deformities including kyphosis, coxa valga, significant limitations of joints range of motion including fixed contractures of hips, knees and elbows. On physical examination, he had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears and micrognathia. He was diagnosed with Morquio's syndrome despite lack of other mucopolysaccharidosis signs such as corneal clouding, glaucoma, and organomegaly and normal laboratory tests including negative urine test for glycosaminoglycans and negative enzyme analysis for sulfatases. There was no family history of similar disorder. His mother appreciated contractures of limbs from 6 th month after birth that progressed slowly over the years. Pregnancy, labor and delivery of the patient were uncomplicated. The diagnosis of SJS should be suspected when a child presents with the triad of myotonia, facial dysmorphism and skeletal deformities.Ī 9-year-old boy referred to neuromuscular clinic from orthopedic service for evaluation of generalized muscles and joints contractures. Based on clinical and electrodiagnostic findings, the diagnosis of SJS type 1B was made and procainamide was started which resulted in clinical improvement. Needle electromyography revealed continuous myotonic discharges at rest with no waxing and waning in all tested muscles. He had proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature, and skeletal deformities. We describe the first case of a Persian 9-year-old boy with SJS and review the literature. Schwartz-Jampel syndrome (SJS), first described in the United States in 1962, is a hereditary disorder characterized by facial dysmorphism and muscle stiffness.
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