ABSTRACT
GRACILE Syndrome, is an autosomal recessive disease presenting with growth retardation, severe lactic acidosis, Fanconi type tubulopathy, cholestasis, iron overload and early death without any dysmorphological or neurological features. The BCSIL gene mutation is responsible for GRACILE syndrome, Bjornstad syndrome and complex III deficiency. Bjomstad syndrome is characterized by sensorineural hearing loss and abnormal flat twisted hair shafts. The case is GRACILE syndrome with Bjomstad phenotype in neonatal period due to BCSL1 gene mutation.
Subject(s)
ATPases Associated with Diverse Cellular Activities/genetics , Acidosis, Lactic/genetics , Cholestasis/genetics , DNA Mutational Analysis , Electron Transport Complex III/genetics , Fetal Growth Retardation/genetics , Hair Diseases/genetics , Hearing Loss, Sensorineural/genetics , Hemosiderosis/genetics , Metabolism, Inborn Errors/genetics , Mitochondrial Diseases/congenital , Phenotype , Renal Aminoacidurias/genetics , Acidosis/diagnosis , Acidosis/genetics , Acidosis, Lactic/diagnosis , Cholestasis/diagnosis , Consanguinity , Fatal Outcome , Fetal Growth Retardation/diagnosis , Hair Diseases/diagnosis , Hearing Loss, Sensorineural/diagnosis , Hemosiderosis/diagnosis , Homozygote , Humans , Infant , Infant, Newborn , Male , Metabolism, Inborn Errors/diagnosis , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/genetics , Renal Aminoacidurias/diagnosis , TurkeyABSTRACT
Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genes generally presenting in the neonatal period with profound hypotonia seizures, inability to feed, liver cysts with hepatic dysfunction, chondrodysplasia punctata. Kabuki make-up syndrome is a multiple congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities, mental retardation and short stature. Abnormal liver functions and some atypical findings were also reported in some patients with Kabuki syndrome. In this report a case with late onset Zellweger syndrome who had some phenotypical findings which are also seen in Kabuki Syndrome will be presented. The inclusion of Zellweger syndrome into the differential diagnosis of the patients with Kabuki-like phenotype in addition to abnormal liver functions is emphasized.
Subject(s)
Abnormalities, Multiple/diagnosis , Hematologic Diseases/diagnosis , Liver/physiopathology , Vestibular Diseases/diagnosis , Zellweger Syndrome/diagnosis , Abnormalities, Multiple/genetics , Child, Preschool , Diagnosis, Differential , Face/abnormalities , Humans , Liver Function Tests , Male , Phenotype , Zellweger Syndrome/physiopathologyABSTRACT
We report a 13-year-old boy with multisystem involvement secondary to accumulation of amylopectin-like material. He was born to consanguineous parents at full term without any complications and his maternal perinatal history was uneventful. His parents were cousins. He had normal growth and development except for his weight. His sister died from an unexplained cardiomyopathy at the age of 8 years. Our patient's initial symptom was severe heart failure. Since he also had a complaint of muscle weakness, electromyography was performed which showed muscle involvement. The diagnosis was suggested by tissue biopsy of skeletal muscle showing intracellular, basophilic, diastase-resistant, periodic acid-Schiff-positive inclusion bodies and was confirmed by the presence of a completed branching enzyme deficiency. Similar intracytoplasmic inclusion-like bodies were also found in liver biopsy, but very few in number compared with the skeletal muscle. The patient died from an intercurrent infection. Postmortem endomyocardial biopsy revealed the same intracytoplasmic inclusions as described above affecting almost all myocardial cells. Ultrastructural examination of liver biopsy was nondiagnostic; however, myocardium showed prominent, large, intracytoplasmic deposits. Glycogen branching enzyme gene sequence was normal, and thus classical branching enzyme deficiency was excluded. Our patient represents the first molecular study performed on a patient in whom there was multiple system involvement secondary to accumulation of amylopectin-like material. We suggest that this is an as yet undefined and different phenotype of glycogen storage disease associated with multisystemic involvement.
