Schwartz-jampel syndrome: report of five cases

Abstract

-We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age had generalized stiffness and the characteristic facial as well as osteoarticular changes from birth. Other two boys with 11 and 7 years had less marked dysmorphic changes at birth and manifested myotonia, as a limiting factor, during the second year of age. A girl with two months of age had severe myotonia from birth leading to feeding diffuculties. In all cases the diagnosis was based on dysmorphic features, and on electromyographic changes showing continuous electrical activity of muscle fibers. All were treated with carbamazepine, 20-30 mg/Kg since diagnosis. The four boys (all with normal intelligence) improved of myotonia in daily activities, markedly in three, and moderately in one. The girl did not improve and showed global development delay: by the last follow-up (at 20 months of age) she did not sit unsupported, and had mental retardation. Carbamazepine in SJS-type 1 improves general daily performance and psychological status of the patients.KEY WORDS: Schwartz-Jampel syndrome, myotonia, carbamazepine. Síndrome de Schwartz-Jampel: relato de cinco casosRESUMO -Descrevemos cinco pacientes com a síndrome de Schwartz-Jampel (SSJ) avaliados no Ambulatório de Doenças Neuromusculares da Divisão de Neurologia do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, de 1996 a 1999, com o objetivo de salientar o peculiar fenótipo dismórfico e as diferentes formas clínicas da SSJ. Dois meninos apresentavam SSJ-tipo 1A, mais branda e mais tardia, dois outros meninos apresentavam SSJ-tipo1B, de início mais precoce e dismorfismos mais limitantes, e uma menina apresentava SSJ-tipo 2, forma neonatal, com grave comprometimento, inclusive da sucção. Em todos, o diagnóstico foi baseado nos aspectos clínicos dismórficos, tanto faciais como esqueléticos, e no encontro de anormalidade eletromiográfica caracterizada como atividade elétrica contínua da fibra muscular. Todos receberam carbamazepina, em doses anticonvulsivantes de 20 a 30 mg/Kg, desde a realização da eletromiografia, que foi mantida nas consultas de seguimento, após períodos variando de 15 meses a 4 anos. Os quatro meninos, todos frequentando escola, apresentaram atenuação da síndrome miotônica; esta atenuação foi acentuada em três, notando-se nítida melhora da postura anormal, e moderada em um, que refere menor limitação nas atividades da vida diária. O quadro da menina com SSJ-tipo 2 não se modificou e a paciente manifestou retardo global do desenvolvimento, não tendo adquirido a marcha nem a linguagem por ocasião da última avaliação aos 20 meses de idade. A boa resposta dos sintomas à carbamazepina na SSJ-tipo 1 deve ser enfatizada, poi...

A case of Schwartz–Jampel syndrome with cleft palate

“…Cleft palate has been reported to occur with SJS. Reed et al [14] reported it in one of their five cases, that case needed two surgical procedures to correct the palate. Cleft palate can affect the child's feeding resulting in more growth retardation.…”

Schwartz–Jampel syndrome: a review of the literature and case report

“…Surgical repair of the cleft palate is a challenge in these patients. For example, Reed et al 36 reported that one of their five patients required two surgical procedures to correct a cleft palate. This is the first report we know of which describes the association of dentin defects in a patient with SJS.…”

“…20,37 However, clinically, the associated phenotype represents a continuum from the mild end (DD-II) to the most severe defect (DI-III) and these dentin defects have been referred to collectively as dentin sialophosphoprotein (DSPP)-associated dentin defect. 18,38 Unlike DI-I, which is associated with osteogenesis imperfecta, 18,36,37 DI-II is not a collagen defect, but a disorder of dentin mineralization related to the defects in the noncollagenous dentin matrix proteins. 19 Mutations in DSPP have been demonstrated on chromosome 4q21, which codes for the three major noncollagenous dentin matrix proteins, dentin sialoprotein, dentin glycoprotein, and dentin phosphoprotein.…”

Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity

“…Criteria for inclusion were: (i) Criteria for inclusion were characteristic symptoms of SWS including bowed and short lower limbs, internal cortical thickening, wide metaphyses, dysautonomia symptoms. To accurately compare the clinical outcome of all the patients, we have focused our study only on patients who have survived beyond three years of age (age range: [3][4][5][6][7][8][9][10][11][12][13][14]. Clinical data were collected on questionnaires focused on postnatal evolution.…”

“…Evolution is fatal in most cases due to respiratory distress or unexplained episodes of hyperthermia. Survival beyond 1 year has been previously reported in 12 children (4)(5)(6)(7)(8)(9)(10)(11)(12)(13). The patients reported so far have growth retardation with short and bowed long bones, prominent joints, restricted joint mobility, severe spinal deformities, osteoporosis and spontaneous fractures.…”