Glomerulocystic kidney disease: Case report

A newborn infant with abdominal masses was found to have Glomerulocystic Kidney Disease. Imaging showed markedly enlarged kidneys with multiple macroscopic cysts. Radiographic and clinical findings are discussed.The clinical work-up for this patient took place at the Children's Hospital of Buffalo.     

Sialoblastoma and hepatoblastoma in a neonate

We report a case of salivary gland neoplasm and associated hepatoblastoma. The sialoblastoma was diagnosed by prenatal sonography; however, the hepatoblastoma was imaged post-operatively. Prior knowledge could have prevented a subsequent operation, including the additional risks of repeat anesthesia. We suggest that if a sialoblastoma is in the differential diagnosis, then additional imaging may be indicated because of the possibility of associated lesions. Received: 24 May 1999 Accepted: 22 December 1999     

Ovarian autoamputation in a neonate: a case report with literature review

A case of ovarian autoamputation in an asymptomatic neonate is presented. An abdominal cyst was detected in a 30-week-gestation fetus on an antenatal ultrasound scan (USS). Postnatal USS confirmed the presence of a cyst in the right pelvis and revealed it to be 3.2 cm in diameter. CT and MRI revealed cyst wall calcification and intracystic hemorrhage. To confirm the diagnosis and treatment, the cyst was surgically removed. During the operation, a free autoamputated right ovarian cyst was found and removed from the abdomen. Ovarian cyst autoamputation is an extremely rare complication. In this article, we review the infantile ovarian autoamputation cases reported in the literature and assess their diagnosis and therapeutic management.     

新生儿不完全川崎病1 例报告并文献复习

目的探讨新生儿不完全川崎病的临床表现、诊断和治疗。方法回顾分析1例新生儿不完全川崎病的诊治过程,并复习相关文献。结果患儿,男,出生第26天出现持续发热伴皮疹,抗感染治疗无效;首次冠状动脉超声检查无异常,出现指端脱皮后复查超声证实左侧冠状动脉扩张。经丙种球蛋白及阿司匹林治疗,患儿发热、皮疹好转,3个月后复查左侧扩张的冠状动脉恢复正常。随访6个月、1年及3年,冠状动脉大小及相应指标正常。结论新生儿川崎病少见,且表现不典型。     

Glomerulocystic disease: a severe form in a monozygous twin

One of monozygous twins presented with anuria from birth and was diagnosed on renal biopsy with glomerulocystic kidney disease. There was no associated congenital or hereditary disorder. The other twin was normal and ultrasonography of the renal tracts of both infants was normal. He was managed by peritoneal dialysis. As renal transplantation was not available, the parents discharged him without further treatment.     

Radical surgery in a neonate with craniopharyngioma. report of a case

Ultrasonography revealed a suprasellar tumor in a fetus at 28 weeks of gestation. The male newborn, delivered 10 weeks later, was operated at the age of 17 days, and a craniopharyngioma was completely removed. Intraoperatively, inappropriate secretion of antidiuretic hormone occurred and was followed by diabetes insipidus causing imbalance of fluid and electrolytes. The tumor recurred and was totally removed 1 year later. Further development was uneventful and, at the age of 8 years, the boy is in generally good mental and physical condition except for a left-sided hemiparesis. In contrast to the poor outcome of neonatal craniopharyngioma reviewed in the literature, this case may encourage radical surgery even in the very young.     

Glomerulocystic renal disease: ultrasound appearances

Renal and hepatic sonography were performed in 2 neonates with glomerulocystic renal disease. One neonate had ultrasound findings of normal hypoechoic medullary pyramids, enabling differentiation from infantile polycystic renal disease. Previous case reports have highlighted the similarity of renal ultrasound findings in these two conditions.     

Retropharyngeal neuroblastoma in a neonate: case report and literature review

Primary cervical neuroblastoma (NB) in neonates is extremely rare. We treated a 1-day-old male neonate who presented with stridor and feeding difficulty and was subsequently diagnosed with NB of the retropharynx. The tumor was excised in toto transorally, and no metastatic lesions were confirmed. Histopathology and molecular genetic analysis showed poorly differentiated NB with no N-myc amplification, stage I NB. He has had no signs of recurrence or adverse sequelae during 18 months of follow-up. We report our experience and review the literature.     

Cardiac rhabdomyoma of a neonate: An autopsy case report

A primigravida delivered a cyanosed female infant with a very low Apgar score. Cardiac anomaly of the fetus was detected at 32 weeks of gestation by ultrasonography. The baby died on the day of delivery. Autopsy revealed multiple tumor masses in the interventricular septum and ventricular walls. The tumor originating from the interventricular septum was the largest and measured 3.7 × 3 cm. Histologically, the tumor was composed of large polygonal glycogen-laden cells and ‘spider-cells’. Eosinophilic giant histiocytic cells were also observed in the spleen. Ultrastructural features of the tumor cells correlated with those of typical cardiac muscle cells.     

Unusual US and CT findings in hepatoblastoma: A case report

Hepatoblastoma is the most common primary hepatic tumor in young children and its radiological findings have been well described. We report ultrasound and computer tomography findings in a case of hepatoblastoma diffusely involving the entire liver and presenting as inhomogeneity and numerous cystic lesions in the hepatic parenchyma.     

Ectopic thymus presenting as neck mass in a neonate: a case report

Neck masses are rare in newborns and can represent a big challenge for the paediatric surgeons. Different histological types are reported in the recent literature; while 80% of neck masses are benign, the pediatric surgeon is often called upon to assist in the evaluation, diagnosis and treatment. A two-month old baby was evaluated for an asymptomatic left sided cervical mass, presented at birth, which slowly increased in size. A magnetic resonance imaging scan was performed, with evidence of capsulated solid neck mass, lateral to the sternocleidomastoid muscle, not including the major vassel structures of the neck. The patient underwent surgical excision in the criteria to define the histology of the mass. A well capsulated mass was detected at surgery. At histology, an ectopic cervical thymus tissue was reported. The ectopic cervical thymus is an uncommon entity with only 91 cases reported; only nine occurred in infants, two in the neonatal period. According to the authors, in case of enlarging solid neck mass with unclear imaging or clinical data, complete surgical resection is the only and safe procedure to perform.     

新生儿皮下脂肪坏死1例报告及文献回顾

目的探讨新生儿皮下脂肪坏死(Sc FN)的诊断与治疗。方法回顾性分析1例Sc FN患儿的临床资料,并结合文献分析Sc FN的病因、发病机制、鉴别诊断等。结果女性患儿,足月剖宫产,生后2 d因背部、肩部皮下硬结半天入院,抗感染治疗不佳。入院第10天患儿背部硬结局部出现软化、波动,局部穿刺液镜检示少量炎症细胞浸润,脂肪细胞变性,诊断为Sc FN。随访2月肿块消退,全身状况良好。结论 Sc FN是一种良性脂肪疾病,大多发生在有异常分娩史的足月新生儿,常发生于生后4周内,为自限性疾患,预后良好。     

Malignant rhabdoid tumor mimicking hepatoblastoma: a case report and literature review.

Hepatoblastoma accounts for the vast majority of malignant primary liver tumors in infancy. In contrast, rhabdoid tumors arising in the liver are extremely rare, but they can share clinical and histologic features with hepatoblastoma and can create diagnostic confusion, especially when one is dealing with small biopsies. In this case report we demonstrate that immunohistochemical and molecular techniques can identify the characteristic loss of INI1 and facilitate making the correct diagnosis of primary hepatic malignant rhabdoid tumor. Important similarities and differences between hepatoblastoma and rhabdoid tumors are reviewed, and suggestions are offered to help distinguish these 2 tumor types.     

Double urethral obstruction in a neonate - a case report.

Posterior urethral valves are the most common cause of lower urinary tract obstruction in a male child, generally occurring as an isolated anomaly. Congenital anterior urethral diverticulum, although less common, can also cause urethral obstruction. We report a rare combination of the two anomalies in which the proximal, more severe anomaly prevented the initial expression of the other.     

A neonate with anorectal malformation with rare limb defects report of a case

A 2-day-old male infant, born of a non-consanguineous marriage and uneventful pregnancy was found to have anomalies of vertebral, anal, cardiac, tracheo-esophageal, radial and limb (VACTERL) association. The striking feature was the simultaneous occurrence of two rare limb defects of right upper and lower limb in the baby who also had imperforate anus and ventricular septal defect. These limb defects were-meromelia of the right upper limb (due to transverse deficiency of right humerus and absence of all the bony elements distally), and a short right lower limb due to co-existence of proximal femoral hypoplasia and fibular hemimelia. We could not trace the co-existence of these rare skeletal defects in any case with VACTERL association in the existing English literature, as was observed by us. The simultaneous occurrence of the defects involving distant anatomic sites supports the hypothesis of ‘axial mesodermal dysplasia’ in our patient, rather than ‘caudal regression syndrome’, as is popularly held in patients with anorectal malformation (ARM). Further, it points to occurrence of an early embryonic insult, probably taking place at blastogenic stage, when the developing embryo can be considered a polytopic development field. However, in absence of antenatal history suggestive of exposure to a known teratogen and a chromosomal analysis, it appears that the spectrum of anomalies in this neonate might have resulted secondary to early amniotic leak and temporary oligohydramnios.