A Case of Glycogen Storage Disease Type 1a Mimicking Familial Chylomicronemia Syndrome.

Glycogen storage disease type 1a (GSD1a) is an autosomal recessively inherited inborn error of metabolism caused by a mutation in the G6PC gene, which encodes the catalytic subunit of glucose-6-phosphatase-α (G6Pase-α) enzyme. This enzyme plays a role in the final step of gluconeogenesis and glycogenolysis. Patients carrying GSD1a show growth retardation, hypoglycemia, hepatomegaly, hepatic steatosis, hyperlipidemia, hyperuricemia and lactic acidemia. Long-term symptoms include gouty arthritis and uric acid stones, osteoporosis, renal failure, intestinal impairment, cirrhosis and hepatic adenomas, and eventually, hepatocellular carcinoma. Hyperlipidemia is the indicator of poor metabolic control in GSD1a. Patients with variable levels of triglycerides (TGs) have been reported in the literature. We present a case of GSD1a that presented with severe hypertriglyceridemia (HTG) mimicking familial chylomicronemia syndrome.

COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE.

Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocephalus, developmental delay and other multisystem involvement including hematologic, ocular, renal, hepatic and cardiac symptoms. We report a case of a female infant with cblC deficiency who presented with seizures, developmental delay and hypopigmented cutaneous lesions. To our knowledge, the patient is the first diagnosed with cblC deficiency who had skin hypopigmentation.

A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is caused by a mutation in the gene CLDN16, which encodes paracellin 1 (claudin-16), atight junction protein mediating paracellular transport which is expressed in the thick ascending loop of Henle and in the distal convoluted tubule, where reabsorption of magnesium occurs. We present a 4 years old Turkish female child with a chief complaint of hypocalcemic tetany. A diagnosis of FHHNC was confirmed by genetic testing for a mutation in claudin 16 gene. Claudin 16 gene revealed homozygosity for the p.K183E(AAA>GAA) C. 547A>G indicating the diagnosis of hypomagnesemia with hypercalciuria and nephrocalcinosis. To our knowledge, this is the first case of FHHNC reported in Turkish population diagnosed at molecular level.

An infantile case of Zellweger syndrome presented with Kabuki-like phenotype.

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.

Multisystem involvement in a patient due to accumulation of amylopectin-like material with diminished branching enzyme activity.

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.

Extracorporeal septoplasty combined with open rhinoplasty.

Extracorporeal septoplasty is a radical solution for the severely deviated nose. The major problems associated with this procedure are fixation of the septal cartilage graft and dorsal irregularities. Extracorporeal septoplasty was performed in combination with open rhinoplasty in 17 patients with severe nasal deformities. In this technique septum was totally removed through the columellar incision of open rhinoplasty, corrected outside, and replaced as a free "L" shaped cartilage graft. The cartilage graft was fixated to the upper lateral cartilages to restore the natural relations of the anatomical structures. Additional rhinoplastic manipulations were also performed. The follow-up period was up to 18 months. The overall result was successful in all patients. Nasal deviation did not recur and secondary revisions were not needed for any patient during follow-up.

A well-differentiated giant liposarcoma originating from the buccal fat pad.

Although liposarcoma is one of the most common soft-tissue sarcomas, facial localization is extremely rare. The buccal fat pad is an important anatomic structure located in the face that recently gained interest as a result of increasing research on facial anatomy. In this paper, we report a case of giant liposarcoma originating from the buccal fat pad. The precise localization of the tumor was determined preoperatively with computed tomography examination. The liposarcoma that invaded the body and the extensions of the buccal fat pad was resected completely. The pathological examination revealed a sclerosing, well-differentiated liposarcoma, which is known to be very rare in the head and neck region. Chemotherapy and radiotherapy were not necessary because of the favourable histological type of the tumor and the advanced age and poor general condition of the patient. Local recurrence and distant metastasis were not observed during the 1-year follow-up.

Free rectus abdominis muscle flap for the treatment of complications after neurosurgical procedures.

Neurosurgical procedures may lead to mortal complications. Exposure of the dura mater, brain, or other intracranial structures; persistent cerebrospinal fluid fistulas; and connection between the extradural space and the nasopharynx and paranasal sinuses are complications that can be best treated with microvascular free tissue transfers. We report two patients with complications that occurred after neurosurgical operations. Both patients were treated by a team, including a plastic surgeon, ear, nose, and throat surgeon, and a neurosurgeon. Free rectus abdominis muscle flap was the choice of treatment for reconstruction.