Niemann-Pick disease associated with nonimmune hydrops fetalis

Article Abstract:

Nonimmune hydrops fetalis, a condition of the fetus whereby fluid accumulates in the body cavities and causes swelling, is the consequence of many different disorders, including those of metabolism. In some cases, problems in the production or storage of substances necessary for metabolism cause the swelling. One unusual case of a fetus with nonimmune hydrops fetalis is described. The mother refused invasive prenatal diagnosis (amniocentesis and umbilical cord blood analysis) and pregnancy termination when fetal hydrops was detected by serial ultrasonographic images of the fetus showing marked fluid accumulation and skin swelling of the fetus. One day after fetal death was confirmed, the patient went into spontaneous labor. Severe hydrops was noted at autopsy. Examination of fetal tissues found a large amount of foamy histocytes and myelin-like fissures in the cells of the liver and spleen, histology indicative of the metabolic disorder Niemann-Pick disease. Niemann-Pick disease is characterized by a deficiency in the enzyme needed to break down sphingomyelin, a type of lipid found in nervous system tissue. The excess sphingomyelin builds up in the liver, spleen, bone marrow and lymph nodes. Infants born with the disease have an enlarged liver and spleen and are generally mentally retarded. Death usually occurs within the first two years of life. Although many metabolic disorders cause nonimmune hydrops fetalis, its association with Niemann-Pick disease has not been previously reported. This disease should be added to the list of metabolic diseases resulting in nonimmune hydrops fetalis. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Niemann-Pick disease

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Fetal ovarian cysts: prenatal ultrasonographic detection and postnatal evaluation and treatment

Article Abstract:

Small ovarian cysts are somewhat common in newborns, but large cysts may occur as well. These larger ovarian cysts can be visualized as abdominal masses by ultrasound imaging. Prenatal assessment of cyst evolution by ultrasonography is now possible. This article describes the diagnosis and outcome of 15 cases of prenatally diagnosed ovarian cysts, of which 10 were found during routine scans. Of the 15 cases, 9 had no signs of torsion (twisting). In these cases, fetal age was 19 to 35 weeks of gestation; in four cases, both sides were involved. In the six cases with torsion, all cysts were unilateral and gestational age was similar. The diameters of the cysts with torsion were significantly larger. All fetuses were born in good condition, were over 5.5 pounds; two were delivered by cesarean section. No other birth defects were found. Seven of the nine cases of cysts without torsion resolved within two months; the other two resolved within six months. Surgery was performed in cases of cysts with torsion promptly after birth. No evidence of lesions were found in the ovaries without diagnosed cysts. This article suggests close surveillance of fetuses with torsional cysts, as induced labor or postpartum surgery is frequently indicated. (Consumer Summary produced by Reliance Medical Information, Inc.)

Abnormalities, Cases, Fetus, Ovaries, Ovarian cysts, Prenatal diagnosis

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Noninvasive diagnosis of anemia in hydrops fetalis with the use of middle cerebral Doppler velocity

Article Abstract:

An increase in blood flow in the middle cerebral artery of a fetus with hydrops fetalis is an indication that the fetus may be anemic. Thus, ultrasound measurement of middle cerebral artery blood flow could be a non-invasive way of diagnosing anemia. Hydrops fetalis is an accumulation of excess fluid inside the fetus.

Evaluation, Blood flow, Diagnosis, Measurement, Blood flow measurement, Anemia in children, Pediatric anemia, Diagnosis, Noninvasive, Noninvasive diagnosis

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