Dorfman–Chanarin syndrome in Egypt

A case with full clinical manifestations of Dorfman-Chanarin syndrome

“…In the neurologic involvement of DCS, myopathy with or without elevated serum muscle enzymes and abnormal electromyelography, ataxia, areflexia, diffuse hypotonia, ptosis, cranial nerve palsies, nystagmus, facial weakness, developmental delay are reported [9,11]. Clinical myopathy usually begins in the thirties [3]. In the present case, although electromyelography showed no pathology, he had muscle pain and increased serum muscle enzymes.…”

“…In our case, eye involvement was characterized by findings of nystagmus, strabismus and cataract. Deafness can be seen in DCS, it can occur at any age and it can be progresive [3,11]. In this case odyologic examination revealed bilaterally sensoryneural hearing loss.…”

“…It is shown that Japanese patients have usually myocardial involvement without skin lesions, contrastly, the patients who are from Mediterranean region usually have skin disorders without cardiac involvement [4]. Extracutaneous manifestations including fatty liver, myopathy, cataract, neurosensory hearing loss and neurologic symptoms show clinical variability [3,10]. It has been reported that, the most frequently affected organ is the liver (64 % of cases) [12].…”

“…In the presence of fatty liver hepatic enzymes can be in normal ranges [10]. It is considered that liver biopsy is variable in the diagnosis of DCS [3]. The prognosis of this disorder mainly depends on the course of liver disease and extend of hepatic fibrosis.…”

“…It is characterized by ichthyosiform nonbullous erythroderma, lipid vacuoles in peripheral leukocytes and variable involvement of organs such as liver, muscle, central nervous system, eyes and ears [1][2][3]. Clinical manifestations of this syndrome related with the affected organs are; ichthyosis, myopathy, liver steatosis, sensorineural hearing loss, growth retardation, mental retardation, cataract and a variety of neurological symptoms.…”