Her generalized muscle stiffness showed symptomaticĪlleviation.3 Her family was explained about life threateningĬomplications that may arise during anaesthesia. Was made and patient was put on muscle relaxant and Botox injection forīlepharophimosis. Osteoarticaular changes diagnosis of Schwartz Jampel Syndrome type 1A Taking into account of her characteristic facial features, myotonia and Molecular analysis could not be performed in our setup. Using standard GTG Banding technique of karyotyping (Figure 5). NoĬonsistent structural or numerical chromosomal anomalies were detected 2D-ECHO with colour Doppler study was normal. Nerve conduction study and needleĮlectrode examination revealed complex spontaneous repetitive discharges MRI of brain with orbits with high resolution T1 and T2 Special investigation such as Serum lactate was 11.4 mg/dl, S. Her routine blood investigation was normal. Her other systems such CVS, Per abdomen were within normal Stiffness, grade 5 muscle power throughout with hyporeflexia andīilateral plantar reflex being flexor. The patient had kyphosis of her cervical spine, pectusĬarinatum, pes planus of her feet (Figure 3). Large ears (Figures 1 and 2) receding chin, high arched palate and Like face with narrowing of eye openings (blepharophimosis), low set PhysicalĮxamination revealed microcephaly (49.5 cm), short stature (116 cm) mask History and following investigations settled her diagnosis. Perplexing her physicians for approximately one year, review of clinical But social, language and other milestones were normal. Other motor milestones such as climbing stairs, feeding herself etc wasĭelayed. There was also linear growth retardation. Increased muscle stiffness which became increasingly apparent and Of 5 yrs she was noticed to have distinctive facial features and Her mother noticed unusual positioning of her legs and feet. Two years of her life was uneventful later on showed significantĭelayed developmental changes. She was born to healthy, nonconsanginous parents. We present the case report of 15 year old child with type 1A Schwartz Matrix of basement membrane of cartilage and NMJ there by disruptingĭevelopment of cartilage, bone matrix and causes decreased signal at Partially functional perlecan which is a component of extracellular Recently mutation in gene HSPG2 encoding protein called Perlecan is Myopathy’’.1 It was initially thought to be neurogenic in aetiology. “Congenital blepharophimosis associated with unique generalized Robert S Jampel in archives of Ophthalmology in article called In 1962 first case of SJS was reported jointly by Oscar Schwartz and We hereby report this rare syndrome in neurology. 150 cases have been reported in medical literature so far. Prevelance of this syndrome is <1 in 100000. Schwartz Jampel syndrome is a very rare genetically heterogenous disorder characterized by myotonia, typical facies, growth retardation and osteoarticular changes.
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