Functional decompensation after administration of compound diphenoxylate in a maple syrup urine disease patient:case report and literature review / 中华全科医师杂志

A 14-year girl was admitted with akinesia and difficulty walking due to gait instability after two oral doses of compound diphenoxylate (lomotil). When she was 18-month old, drowsiness and inability to walk were observed after taking lomotil, the symptoms were relieved by taking B vitamins for treatment. The laboratory tests showed the increased blood branched chain amino acid levels; gene detection indicated that the child had compound heterozygous variations of c.745G>A(p.G249S) and c.485-1G>C in the BCKDHA gene. The girl was finally diagnosed as maple syrup urine disease. The domestic and foreign literature was searched, and 11 child cases of maple syrup urine disease with onset of unsteadiness and ataxia were reported, none of whom was associated with oral administration of compound diphenoxylate.

Intumescent abdomen,diminish strength and pericarditis / 中华实用儿科临床杂志

There was a 1 1 -year -old school -aged girl complaining of abdomen intumescing and declining physical fitness for 1 6 months,and hydropericardium for 5 months.The child had a intumescent abdomen and strength diminished strength suddenly.After the strenuous exercise she was more tired than before and lost her appetite.The girl was found cardiac enlargement and calcification of pericardium during security check at the airport.The thoracoabdomi-nal computed tomography(CT)suggested hydropericardium,hydrothorax effusion in the right,and seroperitoneum,pel-vic effusion.The girl had no response to pericardiocentesises,anti -inflammation and antituberculosis therapies.The in-flammatory markers and the findings of autoimmunity were normal after her admission.The purified protein derivatives (PPD)test was (++),but the antituberculosis therapy was invalid,so the diagnosis was unclear.The she had peri-cardiectomy.The pericardium visceral and parietale′s pathology showed hyperplasia,hyalinosis and organization of fi-brous connective tissue,congestion of the blood capillaries,infiltration of inflammatory cells.Terminally,she was diag-nosed as constrictive pericarditis.Symptoms disappeared after treatments with cardiotonic,diuretic and potassium sup-ply.The comprehensive analysis is important clinically,the possible causes should be removed gradually,and pathologi-cal examination must be emphasized during the diagnosis of constrictive pericarditis.

Clinical features and GBA gene mutation in two siblings with typeⅢ Gaucher disease / 临床儿科杂志

Objective To report clinical manifestations, electroencephalogram (EEG), and the genotypes of two siblings with type Ⅲ Gaucher disease.Methods Two patients with different features were siblings. Their clinical data, signs, peripheral leukocytes acid β-glucosidase activity, andGBA gene were analyzed.Results (1) The proband was a boy. He visited us at the age of nine years old because of hepatosplenomegaly, thrombocytopenia and growth retardation without any neurologic symp-toms. He had normal intelligence but abnormal EEG ifndings. The activity of acid β-glucosidase in his leucocytes decreased to 1.5 nmol h-1·mg-1 Pr (normal range 6.0-16.7 nmol h-1·mg-1 Pr), supporting the diagnosis of type Ⅲ Gaucher disease. (2) The elder sister of the proband was 12 years old. She had tonic-clonic seizure and myoclonus seizure from the age of seven years old. Mild hepatomegaly, abnormal EEG, poor effect for antiepileptics, and progressive deterioration of psychomotor abilities were found. Her blood leucocytes acid β-glucosidase activity decreased to 1.8 nmol h-1·mg-1 Pr (normal range 6.0-16.7 nmol h-1·mg-1 Pr). Two heterozygous missense mutations, c.680A>G, (p.N188S) and c.1342G>C (p.D409H) were detected from the two siblings, respec-tively.Conclusions Patients with type Ⅲ Gaucher disease usually have the onset in childhood with typical features of Gaucher disease without neurologic involvement. Abnormal EEG may be helpful to the differential diagnosis of type I or type Ⅲ. On the other hand, neurologic manifestations could be presented as the ifrst symptom in some patients without viscera enlargement. The patients of type Ⅲ Gaucher disease with the same genotype could have different phenotypes, even between the siblings.

Efficacy and safety of rapamycin in treatment of children with epilepsy complicated with tuberous sclerosis / 中华儿科杂志

<p><b>OBJECTIVE</b>To evaluate the therapeutic effect and safety of rapamycin in treatment of children with tuberous sclerosis complex (TSC) complicated with epilepsy.</p><p><b>METHOD</b>This was an open-label, prospective, self-controlled study. From Sep. 2011 to Sep. 2013, 52 patients with the diagnosis of tuberous sclerosis complicated with epilepsy receiving rapamycin treatment for at least 24 weeks were enrolled.</p><p><b>RESULT</b>Of the 52 children, 34 were male and 18 female. The median age at onset of epilepsy was 4.8 months (4 days-49 months), the median age for treatment with rapamycin was 27 months (4.5-172.5 months). Ten children had a family history of TSC. In 24 children TSC gene detection was carried out, among whom TSC1 mutation was detected in 4 cases and TSC2 mutation in 20. Before rapamycin therapy, 59.62%, (31/52) patients took more than 3 antiepileptic drugs, of whom 10 cases even took more than 5 kinds of antiepileptic drugs. Fifty-two patients received rapamycin treatment for 24 weeks, seizure free rate was 25.00% (13 cases), the total effective rate was 73.08% (38 cases); 31 cases received treatment for 48 weeks, seizure free 6 cases, total effective 23 cases; 17 cases accepted treatment for 72 weeks, seizure free 5 cases, total effective 13 cases; 12 cases received treatment for 96 weeks, seizure free 3 cases, total effective 9 cases. With the decrease of seizure attacks, use of antiepileptic drug types were reduced simultaneously, they had a negative correlation. Before rapamycin therapy, the average frequency of seizures was 70.27 times/d, the number of antiepileptic drug kinds was 1.30. After 24, 48, 72, 96 weeks' treatment, the average seizure frequency was reduced to 1.94-2.80 times /d and the antiepileptic drugs were reduced to 0.83-0.97 kinds. On every visit during the follow-up, blood and urine routine tests, liver and kidney function test showed no abnormality in the 52 cases. The drug dosage was 1 mg/(m(2)×d), average 0.7 mg/d (0.35-1.20 mg/d). Blood concentrations of rapamycin remained below 10 µg/L (average 6.5 µg/L). The main side effect was oral ulcer which happened in 23.08% (12/52). The oral ulcer would disappeared 2-3 days later. 17.31% (9/52 cases) had upper respiratory infection.</p><p><b>CONCLUSION</b>Rapamycin was effective in children with tuberous sclerosis and epilepsy with few adverse reactions. The daily dose of rapamycin for children patients is 1 mg/m(2), which has a certain effect on seizures and a good safety profile.</p>

A family with two children diagnosed with aspartylglucosaminuria-case report and literature review / 中华儿科杂志

<p><b>OBJECTIVE</b>The authors sought to investigate the clinical features and characteristics of genetic mutation in patients with aspartylglucosaminuria.</p><p><b>METHOD</b>Clinical data of two pediatric siblings in a family were analyzed retrospectively and relative literature was reviewed in order to study the clinical features, imaging and enzymatic characteristics and genetic mutations.</p><p><b>RESULT</b>Case 1, the proband, male, he was hospitalized at 20 months of age because of fever and hepatosplenomegaly for nine days. This child was of moderate nutritional status and normal development. Blood tests showed hemoglobin 78.0 g/L, RBC3.18 × 10¹²/L, WBC 4.06 × 10⁹/L, neutrophils 0.236, lymphocytes 0.631, platelets 34 × 10⁹/L, C-reactive protein 17 mg/L. Blood biochemistry showed alanine aminotransferase 67.1 U/L, aspartate aminotransferase 74.1 U/L, serum albumin 32.8 g/L, direct bilirubin 10.5 µmol/L, lactate dehydrogenase 301.7 U/L. Bone marrow cytology showed reactive morphological changes in bone marrow cells. Atypical lymphocytes could be seen in both peripheral blood and bone marrow smears. Cranial MRI showed poor myelination. Aspartylglucosaminidase activity in peripheral leucocytes of the proband 5.7 nmol/(g × min) vs. normal control>26.6 nmol/(g × min). On his AGA gene and that of his parents, a heterozygous mutation site located in exon 3, c.392C>T (p.S131L), was identified as a novel mutation inherited from his father. The mutation from his mother has not been detected. The proband was not responsive to the anti-infectious medication, nutritional intervention and symptomatic treatment.He died one month after diagnosis.His elder brother, Case 2, showed fever, recurrent respiratory tract infection and progressive psychomotor regression with hepatosplenomegaly from the age of four years. Cranial MRI revealed extensive symmetrical leukodystrophy in bilateral cerebra, cerebellum and brainstem.He died at the age of six years.Related literature was summarized, and no Chinese AGU cases had been reported; 221 foreign cases were collected. The clinical and imaging characteristics were summarized. Delay in language development was one of the clinical symptoms that the majority of parents of AGU children first noted.</p><p><b>CONCLUSION</b>Patients with aspartylglucosaminuria lack of specific symptoms.For children with unexplained delayed speech and progressive mental retardation, the possibility of AGU should be considered, and efforts be made for enzymatic and genetic diagnosis. c.392C> T (p.S131L) was identified as a novel mutation of AGA gene.</p>

A case-control study about the preventive effect of magnesium sulfate on hypertention caused by ACTH in the treatment of infantile spasms / 临床儿科杂志

Objective To examine the preventive effect of magnesium sulfate on hypertension caused by ACTH in the treatment of infantile spasms (IS). Methods 46 children diagnosed as IS were recruited from two hospitals during May, 2011 to October, 2013.23 patients in group A (treatment group) were treated with magnesium sulfate and ACTH in hospital A;another 23 cases in group B (control group) were treated with ACTH only in hospital B. The therapy course was 2 weeks. Results Hyperten-sion was not observed in the treatment group, while 6 children were observed with hypertension in the control group. There was signiifcant difference between the two groups (P<0.05). Conclusions Magnesium sulfate could prevent the incidence of hyper-tension in the treatment of IS with ACTH, and beneift the completion of treatment course.

Sleep frequent tongue bite / 中华实用儿科临床杂志

The 10-month baby boy,with normal development,mainly due to sleep in frequent tongue bite nearly 4 months.Bitten his tongue after faring asleep,biting bleeding,bite pain awake.Many of his tongue ulcers,serious impact on children's lives,family companionship in suffering.History found in the supplementary week before the onset of the left frontal children hurt skin bruising.Electroencephalogram showed:Sleep of epileptiform discharges in the left frontal and central anterior temporal areas,but bite the tongue during sleep electroencephalogram synchronization no relevant abnormal discharge.The final diagnosis of traumatic epilepsy,frontal lobe epilepsy syndrome automatically lead to tongue bite tongue with traumatic ulcers.Oral Clonazepam 0.25 mg before sleep,the symptoms disappeared that night,nighttime sleep peacefully.His tongue ulceration has healed after a month.Readers are advised to take advantage of these key parts of the diagnostic process and diagnostic thinking or diagnostic procedures,combined with their own clinical practice,serious thinking,learning,summarized,and benefit from it.