Diffuse neonatal gastrointestinal hemangiomatosis: CT findings

A 3-week-old boy presenting with a cutaneous hemangioma and gastrointestinal bleeding was found to have gastrointestinal hemangiomatosis involving the entire small bowel diagnosed by exploratory laparotomy. We present the striking, diffuse enhancement of the small bowel wall in this unusual disorder as demonstrated by dynamic contrast-enhanced computed tomography after the bowel was distended with non-radiopaque material. Received: 28 February 1997 Accepted: 26 January 1998     

先天性肾病综合征合并新生儿红细胞增多症 1 例报告

目的探讨先天性肾病综合征(CNS)和新生儿红细胞增多症之间的关系及临床诊治。方法回顾分析1例CNS合并新生儿红细胞增多症患儿的临床表现、诊治经过,同时复习相关文献。结果男婴,生后即出现腹胀,随后出现喂养不耐受、反应差;出生第3天血红蛋白249 g/L,红细胞比容0.714 L/L,诊断新生儿红细胞增多症;经部分换血治疗后,症状好转;生后第6天出现水肿,尿蛋白+++,血白蛋白12.7 g/L,血胆固醇8.84 mmol/L,临床诊断CNS,给予口服激素等治疗无效,生后32天死亡。结论 CNS合并新生儿红细胞增多症临床罕见,两者合并存在更易诱发血栓栓塞合并症及器官功能障碍,临床预后差。     

Diffuse neonatal hemangiomatosis in a very low‐birthweight infant treated with erythropoietin

Diffuse neonatal hemangiomatosis (DNH) is a rare condition characterized by the concomitant development of multiple cutaneous infantile hemangiomas (IH) and visceral hemangiomas. Recently, an association between erythropoietin treatment and an increased incidence of infantile hemangioma was noted. A Japanese male infant was born via cesarean section at 27 weeks of gestation. Following the commencement of erythropoietin treatment for anemia of prematurity, he developed multiple cutaneous hemangiomas, high cardiac output heart failure and hepatomegaly. Abdominal imaging indicated comorbidity of diffuse infantile hepatic hemanigomas, resulting in the final diagnosis of DNH. The discontinuation of erythropoietin treatment and long‐term therapy with propranolol improved the hepatic lesions and cutaneous hemangiomas. The possibility of multiple organ involvement and the exacerbating effects of erythropoietin treatment should be considered in cases in which multiple cutaneous hemangiomas develop in preterm infants receiving erythropoietin treatment.     

Noonan syndrome associated with neuroblastoma: a case report

We report a case of a child with Noonan phenotype and incidental radiographic findings of mediastinal neuroblastoma. Recent studies have reported an increased association of Noonan syndrome with some malignancies, and the case we present here is the first reported case to our knowledge of an association of neuroblastoma with Noonan syndrome. Received: 23 January 1996 Accepted: 27 March 1996     

Anonychia associated with ectrodactyly syndrome: a case report

Anonychia with ectrodactyly is a rare inherited autosomal dominant syndrome. A case of a two-month-old female infant presenting with anonychia in association with ectrodactyly and microcephaly is presented.     

MRI of disseminated neonatal hemangiomatosis: Case report

A term neonate developed progressive multiple skin hemangiomas with subsequent visceral involvement in the first month of life. MRI was used to evaluate the extent of visceral involvement and to document the response to steroid therapy.     

Bardet-Biedl syndrome associated with vaginal atresia: a case report

This is a case report of Bardet-Biedl syndrome associated with vaginal atresia diagnosed in a 15-year-old girl. She had mild mental retardation; obesity; nistagmus, retinitis pigmentosa and optic atrophy in both eyes; accessory digit on the left hand; polydactyly in lower extremities; a mobile, painful, nonfixed mass of 6 cm in diameter in the pelvic region; a palpable cystic mass in front of the rectal wall; and no vaginal opening. Secondary sex characteristics were determined. The vaginal atresia was distinguished from vaginal agenesis by the presence of proximal vagina in radiological examination.     

Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report

The aim of this presentation was to report a case with Axenfeld-Rieger syndrome (ARS) associated with truncus arteriosus (TA). We present a 14-year-old boy with ARS in whom the diagnosis was confirmed by ophthalmologic examination and developmental defects of the teeth and facial bones. Echocardiography revealed TA. With this case demonstrating the association between ARS and TA, the range of reported cardiac malformations is enlarged and the importance of cardiologic evaluation is emphasized in patients with ARS.     

Diffuse neonatal hemangiomatosis with extensive involvement of the brain and cervical spinal cord

Background. Diffuse neonatal hemangiomatosis (DNH) is a rare disorder first recognized at birth or during the neonatal period. DNH is characterized by numerous cutaneous and visceral hemangiomas involving three or more organ systems. Materials and methods. Although the skin and liver are most frequently affected, we present a case of DNH demonstrating an unusual predilection for the central nervous system (CNS). Results and conclusion. We report the imaging findings in a patient with this disorder, paying particular attention to the features seen on cranial sonography and spinal MR imaging. Received: 23 April 1998 Accepted: 16 November 1998     

Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome associated with multiple congenital anomalies caused by a mutant X-linked recessive trait. The authors report on a 14-month-old male patient affected by hepatoblastoma. As far as is known, this is the second patient reported with SGBS and hepatoblastoma. The observations emphasize that an increased risk of neoplasia in SGBS must be kept in mind, especially in young patients.     

Williams-Beuren综合征合并慢性肉芽肿病一例

患儿男,4岁,因"反复发热、咳嗽2周"入佛山市第一人民医院儿科,患儿有"小精灵脸"面容,存在轻度精神及生长发育迟缓,既往有反复感染病史,二羟罗丹明123试验提示中性粒细胞呼吸爆发功能低下,临床外显测序发现患儿的母源性染色体7q11.23 区域发生拷贝数缺失,实时荧光定量核酸扩增检测系统证实患儿NCF1基因的2号外显子纯合缺失,因此患儿同时患有Williams-Beuren综合征(WBS)合并慢性肉芽肿病(CGD)。在极罕见的遗传情况下,WBS微缺失片段包括NCF1基因,NCF1等位基因发生变异, 则会导致CGD。     

Hypodipsia-hypernatremia syndrome associated with holoprosencephaly in a child: a case report

We report a child with diabetes insipidus and hypodipsia associated with holoprosencephaly. A two-year-old girl with the history of several admittances to hospital during and after the newborn period with hypernatremic dehydration, acute renal failure and convulsions is presented. The patient had hypodipsia, hypernatremia, microcephaly, failure to thrive, and unilateral cleft lip and palate. Magnetic resonance imaging revealed lobar type holoprosencephaly. Increased plasma osmolality and decreased urinary osmolality were detected. Her urine ADH level was 10 ng/day. Plasma osmolality levels returned to normal after hydration and administration of a vasopressin analogue. These findings suggest that in children with hypernatremia-hypodipsia syndrome, the possibility of cerebral malformations should always be kept in mind.     

Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case

OBJECTIVE: To describe an atypical case of Down syndrome presenting with additional clinical manifestations that might be components of Kabuki (Niikawa-Kuroki) syndrome.CLINICAL REPORT: We report the clinical history of a 19-month-old girl with a 47,XX, +21 karyotype, who presented brachycephaly, flat face, long palpebral fissures, eversion of the lateral portion of the lower eyelids, arched eyebrows with sparse lateral regions, long eyelashes, epicanthus, cortical cataract, small ears, protruding tongue, muscular hypotonia, developmental delay, hyperflexibility of joints, brachydactyly, and dermatoglyphic abnormalities.CONCLUSION: The diagnosis of Down syndrome was confirmed cytogenetically. However, the presence of additional anomalies - mainly in the ocular region - suggested that the child might also have the Kabuki syndrome.     

Tubulo-interstitial nephritis and uveitis syndrome associated with mastitis: a case report

A new case of tubulo-interstitial nephritis and uveitis (TINU) syndrome in a 14-y-old girl is described. In this patient unilateral mastitis was an associated feature. The aetiology of this rare syndrome, the prognosis for which is usually good, is still unknown. The most common theory supports a cell-mediated immune response induced by infectious/antigenic stimuli. CONCLUSION: The presence of acute unilateral mastitis in this patient may represent an additional localization in TINU syndrome.