Neurocutaneous melanosis

Neurocutaneous melanosis (NCM) is a rare congenital syndrome characterized by large or multiple congenital melanocytic nevi and excessive proliferation of melanotic cells in the leptomeninges. We report the case of a girl with a giant hairy nevus and numerous small nevi since birth. Within the first 2 years of life she developed clinical features of increased intracranial pressure and West s syndrome. At 2 years of age she presented a right facial palsy and myelopathy. Brain and spinal magnetic resonance imaging demonstrated meningeal infiltration. Diagnosis of NCM was established by a detailed cytologic analyses of the cerebrospinal fluid that revealed melanocytic cells. She received palliative treatment. The girl died 2 months after. Patients with large or multiple congenital melanocytic nevi should be carefully followed up with clinical examination and neuroimaging to detect NCM. At present there is no curative treatment. The association of NCM and West s syndrome has not been previously described.     

Age-related changes of the MR appearance of CNS involvement in neurocutaneous melanosis complex

We report a case of giant congenital melanocytic nevi (GCMN) at risk of developing neurocutaneous melanosis (NCM) with age-related changes observable on MRI of the brain. However, although the usefulness of MR imaging in NCM is well known, age-related changes on MRI have rarely been reported. The prevalence of positive MRI findings and prognosis in GCMN accompanied by epilepsy and/or mental retardation awaits clarification. This case report may suggest the importance of serial brain MRI in cases of GCMN in assessing the risk of NCM. Received: 22 April 1999/Accepted 20 March 2000     

Neurocutaneous melanosis with hydrocephalus, intraspinal arachnoid collections and syringomyelia: case report and literature review

Neurocutaneous melanosis (NCM) is a rare nonfamilial syndrome, characterised by large or numerous congenital pigmented nevi and excessive proliferation of melanin-containing cells in the leptomeninges. We report the MR findings in the brain and spine of a child with NCM who underwent neurosurgical treatment and was followed up for 8 years. The findings in this child (small hyperintense collections of melanocytes in both temporal lobes, mild meningeal enhancement along the spine and the development of an extensive subarachnoid CSF accumulation with cord compression and syringomyelia) are believed to be exceptionally rare. Received: 26 January 1999/Accepted: 10 October 1999     

Tératome sacrococcygien bénin chez l’enfant : revue de littérature à propos d’un cas

Sacrococcygeal teratomas are rare congenital tumors, generally discovered at birth. These tumors are seldom observed in children. Radical resection must be performed to avoid potentially malignant recurrence even if the primary lesion is benign. We report a case in an 8-year-old girl who did not have a past medical history. Since the age of 2 years, she presented a progressive sacral tumefaction with no neurological deficit. The MRI showed a large sacrococcygeal cyst in hypointense-signal T1-weighted imaging with no contrast enhancement, and a hyperintense signal in T2-weighted imaging. At surgery, the tumor was totally removed. The intraoperative aspect was that of a viscous cyst. The histological study showed a sacrococcygeal teratoma.     

Horizontal gaze palsy with progressive scoliosis: CT and MR findings

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence. We present a child with clinical and neuroimaging findings typical of HGPPS. CT and MRI of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft. We briefly discuss the imaging aspects of this rare entity in light of the current literature.     

Rapidly progressive and fatal neurocutaneous melanosis presenting as recurrent headache

Neurocutaneous melanosis is an extremely rare disease characterized by large or multiple congenital melanocytic nevi and benign or malignant proliferation of melanocytes in the central nervous system. Neurological manifestations usually develop during the first three years of life and the prognosis of patients with NCM who manifest neurological symptoms is very poor. Here we describe a 9‐year‐old girl who manifested neurological symptoms caused by communicating hydrocephalus and died of proliferation of melanocytes in the central nervous system 11 months after the initial symptoms. Serum and cerebrospinal fluid 5‐S‐CD levels could be a useful marker of disease progression, even in patients with NCM without apparent malignant findings at initial biopsy.     

Laparoscopic‐assisted pancreaticoduodenectomy in a child with gastrinoma

Gastrinoma is rare in children. We report the case of a 9‐year‐old boy with weight loss and vomiting. Upper gastrointestinal imaging showed severe stenosis of the duodenum. Although gastrin was very high, imaging did not show a gastrinoma. Selective arterial secretagogue injection (SASI) test indicated a tumor within the gastroduodenal arterial zone. In accordance with the SASI test result, we performed laparoscopic‐assisted pancreaticoduodenectomy (LAPD). Postoperative biochemistry confirmed complete resection of the gastrinoma, and the patient was asymptomatic at follow up, 30 months after surgery. Even in patients with negative imaging for gastrinoma, aggressive resection following accurate localization on SASI test is biochemically curative. In such cases, the tumor is probably very small and LAPD may offer a minimally invasive procedure. As far as we know, LAPD in a child has not been previously reported.     

Congenital pancreatoblastoma: report of an atypical case and review of the literature

Pancreatoblastoma is a rare malignant tumor of the pancreas mostly diagnosed in childhood. The clinical presentation and outcome of infantile and congenital pancreatoblastoma have not been clearly elucidated. This report describes our recent institutional experience with an unusual case of congenital pancreatoblastoma. Review of the scientific literature identifies approximately 200 cases of pancreatoblastoma. We describe the 9 infantile (aged 3 mo and younger) and 4 congenital cases previously reported and summarize their clinical presentation and outcome. We also define the close association of infantile/congenital pancreatoblastoma and Beckwith-Wiedemann syndrome (50%) versus all affected age groups (4.5%).     

Rein droit intrathoracique et hernie diaphragmatique congénitale : une association rare chez le nouveau-né

Ectopic intrathoracic kidney is a very rare congenital anomaly, which is often asymptomatic and discovered incidentally on chest radiography. Diagnosis of this ectopia in the neonatal period is extremely rare. We report the case of a female infant admitted for mild respiratory distress at birth in relation with maternofetal infection in whom a right posterior opacity on chest x-ray was diagnosed as intrathoracic kidney by sonography and chest CT scan. Diaphragmatic hernia could not be confirmed at this stage. At 2 months, the presence of air blebs on chest x-ray performed for viral bronchiolitis confirmed an associated right Bochdalek hernia. The infant, although asymptomatic, underwent surgery. The intrathoracic kidney was reduced into the abdominal cavity at the time of surgery. The postoperative course was uneventful and renal function was normal.     

先天性巨细胞病毒感染抗病毒治疗的效果和安全性观察

目的：观察更昔洛韦（GCV）和（或）缬更昔洛韦（VGCV）治疗先天性巨细胞病毒（ CMV）感染患儿的疗效和不良反应。 方法：回顾性纳入2012年3月1日至2017年5月31日在复旦大学附属儿科医院（我院）新生儿科住院、确诊为先天性CMV感染的患儿,随访至2017年12月31日。从病史资料中提取患儿的一般资料,抗CMV治疗的药物和疗程,新生儿期及1、 3和6月龄的肝脾触诊检查结果、胆红素和肝功能检查指标、CMV抗体和DNA检测结果、颅脑MRI、眼底检查结果和听力检测结果,治疗期间药物的不良反应。根据抗病毒治疗与否以及疗程长短分组,比较各组的临床特征和治疗反应。 结果：28例先天性CMV感染患儿进入本文分析,其中早产儿11例,男17例;无症状/轻度症状9例,未予抗病毒治疗;中重度症状19例,GCV和（或）VGCV治疗≤6周组11例,治疗6个月组8例。①6月龄时,除1例胆汁酸轻度升高外27例中枢神经系统以外的症状和体征、胆红素、肝功能和血常规均恢复正常。②无症状／轻度症状组1例在6月龄时出现左侧听力中度损失。治疗≤6周组中,2例CMV相关眼底病变于1月龄时消失; 颅脑MRI异常信号和听力损失者各5例,6月龄时分别有3例和2例无改善。治疗6个月组中,4例先天性CMV感染相关视网膜病变在随访中均消失;3例头颅MRI异常信号者和7例有听力损失者,6月龄时分别有2例和1例无改善。③治疗≤6周组和治疗6个月组在6月龄时中枢神经系统病变改善情况差异无统计学意义。④治疗过程中未发现与GCV和VGCV应用相关的粒细胞减少和肝功能异常。 结论：抗病毒治疗能改善感音神经性耳聋和脉络膜视网膜炎,GCV和（或）VGCV≤6周与6个月的治疗效果相近;建议对无临床症状先天性CMV感染患儿行眼底检查、脑干诱发电位和头颅MRI检查。     

MRI findings in Shwachman diamond syndrome

Shwachman Diamond Syndrome (SDS) is a rare congenital disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and skeletal changes. Because of the heterogeneous clinical presentation and the limits of laboratory tests that assess pancreatic insufficiency, the diagnosis of SDS can be challenging. Pancreatic lipomatosis, a typical feature of this syndrome, is also difficult to assess by direct tissue sampling. In these circumstances, magnetic resonance imaging (MRI) provides a readily available, noninvasive tool to evaluate the pancreatic fat content. We report a case of a 12-month-old male in which abdominal MRI was used to confirm the clinical diagnosis of SDS.     

Vesico‐amniotic shunting for lower urinary tract obstruction in a fetus with VACTERL association

Newborn cases of VACTERL association with lower urinary tract obstruction (LUTO) are rare and there have been no reports on those patients undergoing fetal therapy in English literature. We successfully performed vesico‐amniotic shunting in a fetus having LUTO caused by abnormality of the external genitalia at 16 weeks’ gestation. Although fetal karyotype was normal 46XY, follow‐up fetal ultrasound examinations revealed ventriculomegaly in the brain, a small stomach and a right multicystic dysplastic kidney. MRI at 31 weeks’ gestation suggested lobar type holoprosencephaly. Diagnosis of VACTERL association was confirmed postnatally. We consider that vesico‐amniotic shunting is indicated for a fetus of VACTERL association with LUTO if the parents wish the procedure after genetic counseling and explanations about the fetal conditions.     

MR demonstration of a prostate gland in a female pseudohermaphrodite

We present the rare case of a 14-year-old female pseudohermaphrodite due to congenital adrenal hyperplasia (CAH). MRI revealed the presence of a hypoplastic uterus, ovaries, clitoromegaly, and prostate gland with its typical zonal anatomy. Transrectal sonography also confirmed the presence of a prostate gland.     

Antenatal and postnatal management of congenital cystic adenomatoid malformation

Congenital thoracic malformations (CTMs) are a heterogeneous group of rare disorders that may involve the airways or lung parenchyma. The authors have focused on the condition that causes the most controversy, namely, congenital cystic adenomatoid malformation (CCAM). The reported incidence is 3.5 and 0.94 per 10,000 live births for CTMs and CCAMs respectively. Ultrasound is the antenatal imaging modality of choice for screening for CCAMs whilst magnetic resonance imaging is complimentary for morphological and volumetric evaluation of the foetal lung. Most CCAMs are detected antenatally with only a small proportion presenting postnatally. Only a few CCAMs cause foetal problems, with foetal hydrops being the best predictor of death. Although many CCAMs regress during pregnancy, most remain detectable postnatally by CT scans. Surgical excision of symptomatic lesions is relatively straightforward, but management of asymptomatic lesions is controversial. Some surgeons adopt a "wait and see" approach operating only on those patients who develop symptoms, but others operate on asymptomatic patients usually within the first year of life. Due to the potential of malignant transformation, children should have long term follow up. There is an urgent need to delineate the natural history of antenatally detected CCAMs to guide future management.     

Malignant hypertension in a child with phakomatosis pigmentovascularis type II b

Phakomatosis pigmentovascularis (PPV) is a rare congenital syndrome characterized predominantly by cutaneous vascular malformations and pigmentary naevi. The most frequently reported form, Type II b, is associated with systemic involvement. Sturge-Weber Syndrome (SWS) with concomitant glaucoma, Klippel-Trenaunay Syndrome (KTS) and naevus of Ota have been frequently described, but there have only been two case reports with asymptomatic renal anomalies. CONCLUSION: We report the first case of PPV associated with SWS and naevus of Ota presenting with malignant hypertension secondary to bilateral renal artery stenosis. This case raises the possibility that the phakomatoses are not distinct entities but a spectrum of overlapping neurocutaneous, vascular and renal features.     

Recurrent ventricular tachycardia in asymptomatic young children with an apparently normal heart

Abstract Ventricular tachycardia without underlying heart disease is rare in infancy and childhood. Four young children (median age 8 months at initial presentation) with frequently recurrent episodes of asymptomatic and self-limiting ventricular tachycardia are reported. By noninvasive investigation no apparent heart disease has been found in all patients. Initially three of the four children had been treated with an anti-arrhythmic drug. Treatment was soon stopped in two patients for lack of symptoms and for lack of efficacy of therapy; one patient remained on beta-blocker therapy. One child did not receive anti-arrhythmic therapy. After a mean follow up of 32 months all patients continued to be asymptomatic despite frequently recurrent episodes of self-limiting ventricular tachycardia.Conclusion Ventricular tachycardia in asymptomatic children with an otherwise normal heart carries a good prognosis. Invasive investigation (cardiac catheterization with electrophysiological study and right ventricular biopsy) can be with-hold, as long as there are no symptoms. For lack of efficiency of antiarrhythmic drugs in suppressing ventricular tachycardia in asymptomatic children with apparently normal hearts, these patients may be left without therapy but have to be followed closely.     

Congenital self-healing reticulohistiocytosis - an important diagnostic challenge

Aim: To present current and new knowledge on congenital self‐healing reticulohistiocytosis, a benign variant of cutaneous Langerhans cell histiocytosis presenting with skin lesions in the neonatal period. Methods: We describe and photo document two cases of this rare disease and review the literature. Results: Only few newborns have acute access to a neonatal dermatologist, and we demonstrate how the spontaneous cutaneous involution may happen even prior to the first dermatological assessment. As no sole criterion can reliably distinguish the self‐healing form from disseminated disease, multidisciplinary assessment and follow‐up are essential. Conclusion: Our data document how easily the diagnosis congenital self‐healing reticulocytosis may be missed and emphasize the importance and value of instant clinical photographing at the neonatal unit and the use of teledermatology whenever congenital self‐healing reticulohistiocytosis is suspected.     

Various Modalities for Evaluation of a Fused Heart in Conjoined Twins

Conjoined twins are a rare congenital anomaly with an estimated incidence of 1/50,000 to 1/100,000. Among thoracopagus conjoined twins, 75% have a fused heart. We compare the usefulness of various modalities for evaluating cardiovascular structure in fused-heart conjoined twins. We report a series of 20 sets of thoracopagus conjoined twins as well as the results of a PubMed database literature review literature from 1982 to 2009. Twenty sets of fused-heart thoracopagus conjoined twins were evaluated by echocardiography, cardiac catheterization, magnetic resonance image (MRI), and three-dimensional computed tomography angiography (3D-CTA). Imaging results were compared to findings at surgery or autopsy. All sets of conjoined twins underwent postnatal echocardiography; 11 sets (55%) underwent cardiac catheterization; 4 sets (20%) underwent MRI; and 1 set (5%) underwent 3D-CTA. All intracardiac anatomy (ICA) was identified by echocardiography. Cardiac catheterization, MRI, and 3D-CTA were able to identify extracardiac vascular structures as well as the ICA. 3D-CTA, which can be performed as early as the first week of life, is a noninvasive, less expensive, and the safe examination with minimal risk due to its short procedural time. Three-dimensional CTA is an effective and safe modality for evaluating the cardiovascular anatomy of fused-heart conjoined twins before surgery.     

Congenital malignant melanoma

A 6-week-old girl with congenital melanoma of the skin is reported and the literature is reviewed. We believe this to be the first case of congenital melanoma in a black infant who had no underlying giant melanocytic nevus. Because of the significant relationship between the early treatment and prognosis of malignant melanoma, we wish to alert pediatric clinicians to the existence of this rare congenital neoplasm.