Ochoa syndrome: a spectrum of urofacial syndrome

The urofacial syndrome, also known as Ochoa syndrome, is a rare autosomal recessive condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems due to a dysfunctional bladder. We report 11 patients with urofacial syndrome in five families from Turkey with a median follow up of 32 months (range, 2–44 months).     

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

We describe a child of Middle Eastern descent by first-cousin coupling with idiopathic neurogenic bladder and high-grade vesicoureteral reflux at 1 year of age, whose characteristic facial grimace led to the diagnosis of Ochoa (urofacial) syndrome at age 5 years. We used homozygosity mapping, exome capture and paired-end sequencing to identify the disease causing mutation in the proband. We reviewed the literature with respect to the urologic manifestations of Ochoa syndrome. A large region of marker homozygosity was observed at 10q24, consistent with known autosomal recessive inheritance, family consanguinity and previous genetic mapping in other families with Ochoa syndrome. A homozygous mutation was identified in the proband in HPSE2: c.1374_1378delTGTGC, a deletion of 5 nucleotides in exon 10 that is predicted to lead to a frameshift followed by replacement of 132 C-terminal amino acids with 153 novel amino acids (p.Ala458Alafsdel132ins153). This mutation is novel relative to very recently published mutations in HPSE2 in other families. Early intervention and recognition of Ochoa syndrome with control of risk factors and close surveillance will decrease complications and renal failure.     

Pericardial effusion as a sign of acquired hypothyroidism in children with Down syndrome

In three children with Down syndrome and acquired hypothyroidism echocardiography was performed before and after the start ofl-thyroxine treatment. Initial studies revealed pericardial effusions which resolved during treatment suggesting that they were caused by hypothyroidism. The incidence of hypothyroidism in Down syndrome is high, but the diagnosis is often missed for lack of specific clinical criteria. The finding of pericardial effusion by echocardiography may be essential in discovering thyroid dysfunction. The cases illustrate that regular thyroid function tests are important in Down syndrome.     

Nocturnal hypoventilation in children with nonprogressive neuromuscular disease

Eight patients between 4 and 24 years of age with nonprogressive neuromuscular disease sought medical attention because of severe nocturnal hypoventilation. There were two types of findings: subacute with progressive early morning headaches and daytime drowsiness and acute with ventilatory failure and cor pulmonale. Seven patients were ambulant. Seven were successfully treated with either a cuirass negative pressure ventilator or a positive pressure ventilator via a tracheostomy. The ventilatory assistance was only used at night and resulted in rapid resolution of early morning symptoms and a return to full daytime activity. One patient died as a result of an intercurrent respiratory infection before respiratory support could be given. It is important to be aware of this potentially life-threatening complication in patients with an otherwise good prognosis and of the benefit to be derived from active treatment.     

儿童Lowe综合征OCRL基因突变2例报告

目的探讨儿童Lowe综合征的临床特点和基因特征。方法分析2例Lowe综合征患儿的临床资料和OCRL基因检测结果,并复习相关文献。结果 2例患儿均为男性,均存在小分子蛋白尿、高钙尿症、佝偻病和肾结石。例2患儿还有轻度代谢性酸中毒、糖尿和隐睾症。例1患儿生后不久发现有视力异常和先天性白内障,并行手术治疗,同时存在精神运动发育落后,头颅磁共振成像(MRI)示胼胝体发育不良。例2患儿就诊时肾外症状不明显,但眼科检查发现有先天性白内障,头颅MRI示脑发育低下、脑白质髓鞘化延迟,且随访过程中逐渐出现智力发育落后。OCRL基因检测发现2个突变,例1为剪切位点突变NG 008638.1:g.46846-46848del TAA/ins C,例2为缺失移码突变NM000276.3:c.321del C,两种突变以前文献均未报道。结论 Lowe综合征的诊断主要通过临床表现和OCRL基因检测,对于有先天性白内障、肾小管病变的患儿需要与Lowe综合征鉴别。本研究发现2个OCRL基因的新突变。     

Radiographic resolution of lymphocytic interstitial pneumonitis (LIP) in children with human immunodeficiency virus (HIV): not a sign of clinical deterioration

Background. The literature and anecdotal evidence associate the resolution of radiographic findings of lymphocytic interstitial pneumonitis (LIP) with a decline in immune and clinical status of human immunodeficiency virus (HIV) infected children. Objective. As our clinical impression was the opposite, we sought to elucidate this contradiction. Materials and methods. Of 52 pediatric patients infected with the HIV currently being followed at our institution, 20 (38.5 %) carried the diagnosis of LIP and 13 (65 %) of these have had complete resolution of radiographic findings of LIP. We retrospectively reviewed the chest radiographs, CD4 counts, and clinical history of these 13 patients. Results. Of the 13 patients who had resolution of radiographic findings, 11 (84.6 %) had no significant change in CD4 count at the time of resolution and remained clinically stable during a mean follow-up period of 32 months. Two patients (15.3 %) developed severe CD4 lymphocytopenia at the time of resolution of LIP, but clinically remained stable. None of these 13 patients had a recurrence of LIP, even with subsequent increases in CD4 count. Conclusion. We suggest that in contradiction to previously published data, resolution of LIP on chest radiographs is not an indicator for poor prognosis for the HIV-infected pediatric patient. Received: 11 April 2000 Accepted: 29 November 2000     

新型甲型H1N1流感患儿消化系统表现

目的：研究新型甲型H1N1流感患儿消化系统表现。方法：对深圳市儿童医院2009年11月至2010年1月因新型甲型H1N1流感住院的153例患儿及其中有消化系统表现的69例患儿进行前瞻性调研,对其临床特征及转归进行总结。结果：在153例住院的新型甲型H1N1流感患儿中,有消化系统表现者69例（45%）,其中有胃肠道症状者50例（33%）,无胃肠道症状仅有肝功能异常者19例（12%）。有消化道表现患儿出现昏迷、神经系统并发症及肌酸激酶增高的比例、入住PICU及死亡人数均高于无消化道表现的患儿(P<0.05)。除5例患儿死于严重并发症外,其余患儿均痊愈,胃肠道症状一般在1~3 d消失,肝功能多在4~7 d恢复正常。结论：新型甲型H1N1流感患儿消化道表现较常见,有消化道表现的患儿神经系统受累比无消化道表现的甲型H1N1流感患儿更多见,应该引起临床医生关注。［中国当代儿科杂志,2010,12（10）：793-795］     

Observations on polyradiculo-neuropathy (Landry-Guillain-Barre-Strohl syndrome) in children

Sumary and Conclusions One hundred and twenty cases of polyradiculoneuropathy (Landry-Guillain-Barré-Strohl syndrome between the ages of 1 and 17 years have been studied. The maximum number of cases (46 cases or 38.33 per cent) occurred in the age group of 3 to under 6 years. Males were more frequently affected than females., The pattern of involvement was predominantly ascending in nature. The distal group of muscles were observed to be more frequently affected than the proximal muscles. The protein content of the C.S.F. ranged between 60 and 620 mg. per cent in this series. Ninety two patients have recovered fully so far. Of them 80 patients recovered within one year. Forty patients were found to be suffering from ascariasis as well and a further probe on the possible role of ascariasis seems desirable. Dedicated to the memory of the Late Ur. K.C. Chaudhuri