2013年 · 第51卷第11期

(August 2013)

A 2-month-old male was admitted to hospital due to yellow staining of skin and sclera for 2 months. The child showed yellowing staining of skin and sclera and progressive aggravation 3 days after birth, yellow urine and pale yellow stool, without accompanying symptoms. The spirit and appetite are normal. One and a half months after birth, he was hospitalized in a local hospital due to persistent jaundice. Liver function examination showed: total bilirubin 217.9 μ mol/L, direct bilirubin 151.8 μ mol/L, alanine aminotransferase (ALT) 31 U/L, aspartate aminotransferase (AST) 231 U/L, γ-glutamyl transpeptidase (γ-GT) 232 U/L; Abdominal B-ultrasound suggested "possible biliary atresia". He was given "ursodeoxycholic acid tablets, compound glycyrrhizin tablets, Vit C" and other treatments for 1 week, and was transferred to our hospital because of no improvement in jaundice.

A 2-year-old and 2-month-old child was seen in the Children's Hospital affiliated to Chongqing Medical University in October 2010 due to "external genital abnormalities for 2 years and 2 months". After birth, the child has external genital abnormalities, which are manifested as clitoral hypertrophy in the shape of a small penis, the clitoris is increasing year by year, the labia majora is asymmetric hypertrophy, and the urethral opening and vaginal opening in normal position can be seen. Accompanied by multiple milk coffee spots on the skin. No vomiting, diarrhea and convulsions, no retardation in mental and motor development, no deformity of limbs, no hirsutism and thinning hair, etc. The mother had no history of ingestion of androgenic drugs during pregnancy, no family history of virilization, and her grandmother, father, and uncle all had a clear history of multiple neurofibroma. Physical examination: weight 10 kg, length 80 cm, sitting height 49 cm, blood pressure 90/60 mm Hg (1 mm Hg =0.133 kPa), consciousness, reaction as usual. There were many scattered circular or irregular milk caffeine spots of 0.2 cm ×0.2 cm ~3.0 cm ×1.5 cm in different sizes on the neck, chest and back, and the perineum was distributed in large patches with clear borders. There was no enlargement of the breast, no pigmentation in the areola, no obvious abnormalities in the heart, lungs and abdomen, and no deformities in the limbs. Tanner stage: B1PH1. External genitals see: The clitoris is hypertrophied in the shape of a small penis with a length of 2.5 cm, and an opening resembling the urethra can be seen on its top. The labia majora is asymmetrically hypertrophic, the left side is larger than the right side, with folds, and no testicular structure is palpable in it. The labia minora is uncolored, and the vaginal opening and urethral opening in normal position are seen on the inner side. Soft tissue mass was seen around the anus (Figure 1，Figure 2)。 Auxiliary examination: blood electrolytes: potassium 4.2 mmol/L, sodium 144 mmol/L, chlorine 96 mmol/L; Cortisol 526 nmol/L, adrenocorticotropic hormone<2.2 pmol/L, Dehydroisoandrosterone<0.407 μ mol/L, Androstenedione<1.05 nmol/L, 17-hydroxyprogesterone 0.24 nmol/L; Sex hormone examination: follicle stimulating hormone 4.16 U/L, luteinizing hormone 0.138 U/L, prolactin 25.3 μ g/L, estradiol 78.2 pmol/L and testosterone 0.074 nmol/L, which belonged to the normal range in children of the same age and sex; Chromosome: 46XX; Y chromosome sex determining gene (−); There were no abnormalities in adrenal CT and chest X-ray; Excretory urography: normal display of urinary tract; Abdominal and pelvic ultrasound: the measured value of the uterus was obviously enlarged, the shape was abnormal, and the interior of it was not homogeneous; No obvious abnormalities were observed in both ovaries; The left labia majora is thicker than the right; Subcutaneous perianal parenchymal lesions; Bilateral inguinal lymph node lesions; No abnormalities were observed in liver, gallbladder, pancreas, spleen and kidney. Pelvic magnetic resonance imaging: branch-like long T1 and long T2 signals in the left buttock and pelvic cavity, mass soft tissue shadows in front of the rectum and behind the bladder, uneven signals, and unknown nature of pelvic soft tissue (Figure 3)。 Pathological sections after laparoscopic bilateral exploratory gonad biopsy and perineal tissue biopsy revealed: perineal neurofibroma; Bilateral gonads are ovarian tissue (Figure 4，Figure 5), final diagnosis: neurofibromatosis with pseudohermaphroditism.

pyridoxine-dependent epilepsy(pyridoxine dependent epilepsy, PDE) is an autosomal recessive genetic disease, and it is also a refractory epilepsy onset in infants and young childrenand epilepsyOne of sexual encephalopathies. Which is characterized in that a large dose of pyridoxine (vitamin B₆) therapy is effective, whereas conventional antiepilepticThe effect of the medicine is not good. PDE was first described by Hunt in 1954^[1], the exact prevalence is unclear, and a few reports vary widely, ranging from 1:20,000 to 1:600,000^[2,3,4]。 With the discovery of diagnostic markers for PDE in 2000^[5]Determination of pathogenic genes in 2006^[6], reports of confirmed cases abroad have increased significantly in recent years, suggesting that the actual prevalence of PDE may be much higher than previous reports. Yang Zhixian et al.^[7]The first genetically confirmed case in China was reported in 2013.

nasal tube oxygen inhalation is a commonly used oxygen supply mode for newborns. The flow rate of standard nasal tube oxygen inhalation is much lower than the inspiratory flow rate of spontaneous breathing. On the contrary, high flow nasal cannulae (HFNC) provide a flow rate that exceeds the flow rate generated by children in the inspiratory phase, so it can provide both oxygen and respiratory support. Recent reviews suggest that ordinary HFNC can produce positive airway pressure, but the cold and dry gas provided by HFNC can easily lead to nasal mucosal damage^[1,2]。 With the improvement of gas warming and humidification technology, humidified HFNC (HHFNC) can humidify the delivered gas to 100% relative humidity (at 37 °C) and maintain the temperature of the gas close to the human body temperature^[1], HFNC is once again attracting attention.

Cardiac voltage-gated sodium channel is a transmembrane glycoprotein located on the surface of myocardial cell membrane, which is mainly involved in phase 0 depolarization and conduction of myocardial action potential, and is an important ion channel to maintain normal excitability and conductivity of myocardial cells^[1,2]。 The gene encoding the alpha subunit of the cardiac sodium channel was first discovered in 1995SCN5AThe mutation is the causative gene of the hereditary arrhythmia long QT syndrome type 3 (LQT3). REPORTED NOWSCN5AAnd more than 600 related regulatory protein gene mutation points, including missense mutation, nonsense mutation, deletion mutation, framework frameshift mutation, splice point mutation, insertion mutation, etc. The disease spectrum extends to more than 30 clinical phenotypes such as Brugada syndrome (BrS), sudden infant death syndrome (SIDS), progressive cardiac conduction disorder, congenital sick sinus syndrome, atrial fibrillation, dilated cardiomyopathy, etc., collectively referred to as cardiac sodium channel disease, which is an important cause of sudden cardiac death in infants and adolescents^[3]。 This paper reviews the clinical phenotype, molecular pathogenesis, and the progress of gene mutation-specific diagnosis and treatment of major cardiac sodium channel diseases caused by cardiac sodium channel structure, function and related gene mutations.

The 4th National Academic Conference on Children's Syncope jointly organized by the Second Hospital of Lanzhou University, the First Hospital of Peking University, the Second Xiangya Hospital of Central South University, the Children's Hospital affiliated to Shanghai Jiaotong University and the Cardiovascular Group of Pediatrics Branch of Chinese Medical Association was held in Lanzhou, Jincheng from July 17 to 18, 2013. 270 expert representatives from all over the country participated in this academic conference.

From September 6th to 19th, 2012, a total of 9 people from the Developmental Behavior Group of Pediatrics Branch of Chinese Medical Association went to Wisconsin Medical College in the United States for two weeks of intensive training under the organization of Professor Jin Xingming, the leader of the group, and gained a lot. I would like to share my experience after learning with my colleagues.