hydrops fetalis/seizures

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Tachyarrhythmia, cardiac rhabdomyomata and fetal hydrops in a premature infant with tuberous sclerosis.

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An hydropic infant was delivered at 32 weeks gestation by emergency Caesarean section for acute polyhydramnios. A diagnosis of cardiac rhabdomyomata was made on echocardiography. The baby survived 10 days, during which time repeated episodes of supraventricular tachycardia occurred. She eventually

SIFD as a novel cause of severe fetal hydrops and neonatal anaemia with iron loading and marked extramedullary haemopoiesis.

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SIFD describes a heritable, syndromic condition characterised principally by sideroblastic anaemia (SA) with immunodeficiency, fevers and developmental delay, arising in mutations within the TRNT1 gene. Other clinical manifestations of SIFD include cardiomyopathy, seizures, sensorineural hearing

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

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The Na⁺/K⁺- ATPase acts as an ion pump maintaining the essential plasma membrane potential in all mammalian cell types, and is essential for many cellular functions. There are four α isoforms (α1, α2, α3 and α4) with distinct expression patterns, kinetic properties and

Prenatal sonographic findings associated with sporadic subcortical nodular heterotopia.

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BACKGROUND Subcortical nodular heterotopia is a neuronal migration disorder of uncertain etiology. This disorder occurs primarily in females and has a familial X-linked dominant inheritance pattern. The predominant symptom associated with heterotopia is seizures. METHODS At 23 weeks' gestation,

[Congenital errors of metabolism with repercussion on the nervous system of the newborn infant. When and how to investigate them].

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BACKGROUND In the last years we have assisted to a great knowledge of inborn errors of metabolism (IEM). As consequence, the clinical suspicion of IEM in neuropediatrics is more frequent. The IEM must be investigated in the newborn with neurologic symptoms without any evident etiology, when

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

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The prognosis for 45,X/46,XX mosaicism diagnosed prenatally has yet to be established. We report our experience with 12 patients in whom prenatal diagnosis of 45,X/46,XX mosaicism was detected by amniocentesis for advanced maternal age or decreased maternal serum alpha-feto protein and compared them

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

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Deficiency of β-1,4 mannosyltransferase (MT-1) congenital disorder of glycosylation (CDG), due to ALG1 gene mutations. Features in 9 patients reported previously consisted of prenatal growth retardation, pregnancy-induced maternal hypertension and fetal hydrops. Four patients died before 5 years of

Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.

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OBJECTIVE Gaucher disease is caused by a β-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. METHODS Clinical findings at diagnosis, GBA mutations, and clinical

Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.

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Background The main objective of this retrospective analysis in a large tertiary center was the clinical outcome of prenatally diagnosed cardiac rhabdomyomas as well as the identification of factors influencing fetal prognosis. Methods A total of 45 cases of fetuses with prenatally suspected

Hypothesis: preeclampsia is a venous disease secondary to an increased intra-abdominal pressure.

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It is hypothesized that in some women an excessively high intra-abdominal pressure (IAP) compresses the inferior vena cava, uterine veins, portal vein, hepatic veins, splenic vein and renal veins which lead to a decreased flow in these vascular beds, producing lower extremity edema, fetal-placental

Rapid growth of a fetal sacrococcygeal teratoma in an HIV-infected woman: a case report.

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BACKGROUND Sacrococcygeal teratoma, the most common congenital neoplasm of the newborn, associated with fetal hydrops and high morbidity and mortality related to the secondary effects of the tumor mass, is of unknown etiology. Prompt diagnosis and early treatment have proven to be

Congenital infections in Hong Kong: an overview of TORCH.

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Congenital infections refer to a group of perinatal infections that may have similar clinical presentations, including rash and ocular findings. TORCH is the acronym that covers these infections (toxoplasmosis, other [syphilis], rubella, cytomegalovirus, herpes simplex virus). There are, however,

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