Hyperechoic metaphyses in hypophosphatasia: what does it mean?

We report a case of hypophosphatasia diagnosed using US and CT at 29 weeks' gestation and confirmed by molecular analysis. Prenatal US revealed very short fetal limbs and severe demineralization of the skull. The diaphyses were normal, but the metaphyses of the long bones appeared hyperechoic with no posterior shadowing. No fractures or long-bone deformations were observed. Three-dimensional helical CT performed at 29 weeks' gestation provided additional details of the abnormal bones, i.e. irregular and cupped metaphyses that were very similar to the radiological findings of hypophosphatasia described postnatally. To our knowledge, the description of hyperechoic metaphyses in hypophosphatasia is unique and is a consequence of abnormal mineralization of the metaphyses that is specific to this pathology.

Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up.

Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed. The admission criterion was a dural mass posterior to the vermis. In 12 patients, MRI was performed after US. Follow-up in 10 born babies (mean: 8 months) and three neuropathological examinations were available. In all fetuses, DSM presented as a well-delimited round mass involving the torcular. The follow-up examinations (n = 10) revealed progressive thrombosis of the DSM marked by a heterogeneous pattern (US and MRI) with concentric rings. The volume of the mass decreased, with complete regression in seven patients (five before and two after birth). One child died at the age of 5 months in the context of major hydrocephalus and another developed atrophy of the frontal lobes. The eight other babies were doing well (5 days to 3 years) without any treatment (n = 6) or following treatment for hydrocephalus (n = 2). Prenatal DSM may have a typical MR pattern, and the prognosis might not be as bad as has previously been reported. In the absence of criterion to predict the hydrovenous cerebral imbalance, it is mandatory to check the parenchyma and the ventricles during the pregnancy.

Prenatal diagnosis of an exceptional intrauterine herpes simplex type 1 infection.

OBJECTIVE: To assess ultrasound findings of a fetus with intrauterine growth retardation (IUGR) and skin damage, related to intrauterine herpes simplex virus (HSV) infection. METHODS: A 23-year-old, G1, P0 woman was referred at 23.5 weeks' gestation (WG) for IUGR. The patient had a previous single episode of serotype 1 herpes progenitalis at 11 WG. Ultrasound examination revealed extensive skin changes with no cerebral involvement. The methods employed for evaluation of the disease included maternal serology, amniocentesis and repeated ultrasound examinations. RESULTS: Maternal serology was positive for HSV1 and fetal infection was confirmed via polymerase chain reaction (PCR). At 27 WG, amniotic fluid index decreased and lower limb skin as well as abdominal skin was irregular. Oesophagus was thickened. In contrast, upper limb skin and cranial vault were thin and less visible. IUGR was predominant as regards bone parameters. After termination of pregnancy, the fetus showed macroscopic characteristics of HSV infection. Microscopic examination revealed only placental and skin lesions. CONCLUSIONS: Our report illustrates a rare case of HSV1 intrauterine infection that occurred during the first trimester with bone and cephalic IUGR associated with extensive skin damage, and with no cerebral involvement.

Anterior axial ultrasound in monitoring infants with Pavlik harness.

Real-time ultrasonography has been used for diagnosis and screening of developmental dysplasia of the hip for several years. If diagnostic criteria are well established, the use of sonography in follow-up of treated infants remains extremely variable. The aims of this study were (a). to describe the normal sonographic anatomy of the infant abducted hip on an anterior axial view, and (b). to define the role of this approach in the follow-up of developmental dysplasia treated by Pavlik harness. Thirty-eight patients with Pavlik harness had anterior axial sonograms in addition to their usual clinical and sonographic follow-up. Normal anatomy was inferred from the examination of 25 clinically proven normal hips in the same population. The best criterion of a normal positioning of the femoral head appears to be the alignment of the pubic bone and the femoral metaphysis. Pavlik harness was the only treatment in 32 patients. It was directly efficient in 22, after readjustment in 10 patients. Reduction was shown by anterior sonography in all of them. In 6 children, sonography showed no reduction and subsequent treatment by closed or open reduction was carried out. Anterior axial sonogram can show reduction of a dislocated hip in children with Pavlik harness, but it does not evaluate its stability. It helps optimize the settings of the harness, and may predict a poor outcome, but it does not identify the cause of non-reducibility.

Fetal capillary haemangioblastoma: an exceptional tumour. A review of the literature.

We report a case of a fetal haemangioblastoma located in the cerebellopontine angle. On prenatal ultrasonographic examination a hyperechogenic and heterogeneous mass with a major vascularization on colour Doppler imaging was observed. It increased progressively and laminated the cerebellum. A neoplastic tumour was suspected but its extent into the cerebral peduncle was unclear. Diagnosis was made at autopsy using histological, immunohistochemical and flow cytometric evaluation. Haemangioblastoma is an exceptional congenital tumour, which is either sporadic or integrated in von Hippel-Lindau disease (VHLD). We discuss the obstetrical management of prenatal brain tumours and the genetic counselling of haemangioblastoma.