A female neonate, with neurological signs and leucocytosis in sterile spinal fluid, was found to have anomalies of the upper thoracic vertebral bodies with a bony spur indicating diastematomyelia. The spur was removed, but symptoms recurred. Necropsy at the age of 5 months revealed an intraspinal gastroenterogenous cyst containing a perforated peptic ulcer. Analysis of eight previous reports of...

Loeys-Dietz syndrome is a recently-characterised genetic disorder with an autosomal-dominant inheritance due to mutations in the transforming growth factor beta-receptor Type 1 or Type 2 genes. We present a Chinese female neonate with genetically-confirmed Loeys-Dietz syndrome, cleft palate, hypertelorism, and an early dilatation of the aortic root and ascending aorta. This syndrome is associat...

Occult spinal dysraphism is defined as a group of dystrophic conditions below an intact cover of dermis and epidermis. Ultrasonography using linear transducers is a fast, inexpensive, and effective method that makes it possible to view the content of the vertebral canal and bone structures. Magnetic resonance imaging (MRI) is reserved for elucidating the type of dysraphism and for planning corr...

Solitary infantile myofibroma with visceral involvement is very rare. We present an unusual case of a solitary myofibroma with abdominal localization in a 1-day-old female neonate who presented with severe anemia and rectal bleeding. A bleeding myofibroma was found, located in the wall of the jejunum, and totally resected. In case of a solitary lesion, treatment is relatively easy and effective...

Neonates with pulmonary atresia and intact interventricular septum (PAIVS) do not have pulmonary vascular disease secondary to their heart abnormality. Persistent pulmonary hypertension of the newborn has not been described in association with this condition. The case is reported of a female neonate born with PAIVS, who preoperatively had no clinical evidence or any risk factors for persistent ...

A 24-day old female Nigerian neonate presented with protracted vomiting, fever and dehydration but without palpable abdominal tumour or visible gastric peristalsis. There was no derangement of serum electrolytes. The initial working diagnosis was Late-Onset Sepsis but abdominal ultrasonography showed features consistent with the diagnosis of IHPS. This case report highlights the atypical presen...

Female neonate admitted to our hospital with an abdominal mass and a thigh mass that were connected as a single dumbbell-shaped mass. CT was done on admission that showed cystic swelling in the thigh with intra-abdominal extension passing under inguinal ligament, most probably lymphangioma. The patient was assessed and prepared for surgery starting with the abdominal part then after two days fo...

A female neonate born at term with a mass at the umbilicus (Fig. 1). Prenatal ultrasound at 22 weeks gestation had noted polyhydramnios, macrosomia, a single umbilical artery and a small ventricular septum defect. Fluorescence in situ hybridization (FISH) analysis at 27 weeks gestation did not identify any chromosomal abnormalities. At birth, the umbilical ring seemed intact and there was no re...

Results The proband, a female neonate, is the first child of healthy nonconsanguineous Chinese parents. She was born by uterine-incision delivery with intrauterine distress after 41 weeks of gestation. Her birth weight was 2.4 kg. She showed an distinctive facies including broad brow, periorbital fullness, epicanthal folds, short nose, long philtrum, small jaw and prominent earlobes. The cardio...

We report a case of a 38-year-old woman with recurrent spontaneous abortion who gave birth to a thrombocytopenic neonate after immunotherapy with husband’ s leucocytes. A 38-year-old healthy female consulted the Department of Immunology and Histocompatibility Center in Thessaloniki. Medical history taken from the woman revealed two abortions. She was pregnant in 1999 and aborted at approximatel...