1 case of disease glycogen accumulation.docVIP

 PAGE \* MERGEFORMAT 5 1 case of disease glycogen accumulation [Keywords:] Analysis of glycogen storage disease A medical record Children, male, 6 years old, because of “bloating, ataxia 2 + months,” admitted. Children in the 2 + months before admission, unexplained abdominal distention, no abdominal pain, diarrhea, no nausea, vomiting, no fever , cough, unstable walking up stairs, after a fall can not stand on their own, at a local hospital for treatment, examination hepatosplenomegaly, for the sake of further treatment, then to the hospital. outpatient doctor “hepatomegaly of unknown origin” income homes. in the course of the disease in children , the spirit, loss of appetite can be, urine normal. Children can not stand, gait instability, not climbing, not self-standing, after falling 5 years old until walking. checkup: P 108 times / min, R 32 times / min, clear mind, the reaction may be, can still be looking, no special face, cheeks pseudo-hypertrophy, body without edema, thick lower limbs, dental hypoplasia, pharyngeal no congestion, lung breath sounds clear and did not hear and dry auscultation, heart sounds strong, heart rate Qi, the valve area is not known and pathological murmurs. belly bulging, soft abdomen, liver and ribs 12 cm, hard, blunt edge of the surface without palpable nodules. splenic no time. limbs normal muscle tone, limb warm. auxiliary examination after admission: Electrolyte: K +4.13 mmol / L, Na +140.4 mmol / L, Cl-101.6 mmol / L, Ca2 +1.26 mmol / L, Mg2 +0.95 mmol / L, Phos 1.85 mmol / L, liver function: ALT 518 u / L, AST 545 u / L, GGT 116 u / L, LDH 404 u / L; renal function: normal, TBA: normal. autoantibodies (-, ceruloplasmin 0.325 g / L; hepatitis markers were negative. CMV-IgG (-), CMV-IgM (-); hemagglutinin four: PT 38.6 s, APTT 147.4 s, ib 1.1 g / L, TT 18.8 s, myocardial enzymes : AST 399 u / L, LDH 304 u / L, HBDH 164 u / L, CK 30 u / L, CK-MB 1.10 u / L. routine urine: normal. blood: WBC 5.16 × 109 / L, N 0.49, L 0.42