Prolonged thrombocytopenia in a child with severe neonatal alloimmune reaction and Noonan syndrome.

Fetomaternal alloimmune thrombocytopenia (FMAIT) caused by maternal antibodies is the leading cause of severe neonatal thrombocytopenia. A 1-month-old Caucasian girl was referred to our Hematology Clinic for persistent thrombocytopenia diagnosed after a bleeding episode. Diagnostic tests suggested FMAIT. Mild thrombocytopenia persisted for 18 months, and subsequent findings of dysmorphic facies, short stature and mild pulmonary stenosis led to the hypothesis of Noonan syndrome (NS), which was confirmed by genetic test. Other hematological abnormalities were excluded and she had no further bleeding episodes. This case illustrates the possibility of different diagnoses with the same clinical manifestations. The persistence of thrombocytopenia longer than expected associated with typical physical features led to the diagnosis of NS.

Nystagmus in a newborn: a manifestation of Joubert syndrome in the neonatal period.

Joubert syndrome is a rare disorder, usually autosomal recessive, with a prevalence of 1:80,000 to 1:100,000. This disease presents most commonly as breathing irregularities, although the two major clinical criteria are hypotonia and developmental delay, sometimes associated with ocular movement abnormalities. The severity of the presentation varies, ranging from mild cases with normal intelligence to severe developmental delays associated with early death. We report a case of a newborn who presented to the emergency department for absent ocular fixation and torsional nystagmus without other neurological abnormalities. Her cranial MR showed cerebellar vermis agenesis and a molar tooth sign. Her laboratory evaluation, and renal and abdominal ultrasound were normal. An electroretinogram showed mixed retinal dystrophy and an AHI1 homozygous missense c.1981T>C mutation was identified (parents are carriers). Throughout infancy, she has shown mild developmental delay and hypotonia, but no respiratory abnormalities. Owing to variable expressivity, a high level of suspicion is required.

Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene.

A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and ß-cell function, adding information to the existent mutation databases.

Rickettsial meningitis.

Rickettsial infections are common in southern Europe and the most frequent and lethal type is Mediterranean spotted fever, caused by Rickettsia conorii. The disease is usually characterised by the classical triad of fever, eschar and rash, and is generally a mild disease in children. Complications including neurological involvement are rarely described. We report an unusual case of meningitis in an 18-year-old man, presenting during summer with fever and persistent headache. The cerebrospinal fluid analysis revealed increased cellularity (107 cells/µL), hypoglycorrhachia (50% of glycaemia) and hyperproteinorrhachia (284 mg/dL). Rickettsial infection was confirmed by serology and the patient was treated with doxycycline, with a favourable outcome. The patient's pet squirrel and/or associated vectors might be involved in the transmission of Rickettsia spp. This case underlines the importance of a high clinical suspicion and the benefits of early empirical treatment when facing compatible epidemiological contexts.

Epstein-Barr virus-associated cholestatic hepatitis.

Epstein-Barr virus infection is common in children, usually presenting as infectious mononucleosis, including fever, tonsillitis and lymphadenopathy associated with self-resolving increase in transaminases. Cholestasis is rare in children with only a few cases reported but it was described in up to 55% of the adult population affected. We present a case of a 6-year-old boy with fever, vomiting and choluria. The physical examination showed hepatomegaly and jaundice and was otherwise unremarkable. The laboratory studies revealed increased transaminases (aspartate aminotransferase 97 U/L, alanine aminotransferase 166 U/L), hyperbilirubinaemia (total bilirubin 3.2 mg/dL, direct bilirubin 2.89 mg/dL) and increased γ-glutamyl transpeptidase (114 mg/dL). Urine urobilinogen was increased. The abdominal ultrasound showed hepatomegaly. Epstein-Barr viral capsid antibody IgM was positive and IgG was negative. Serological studies for other viruses were negative. We underline the need to consider Epstein-Barr virus in the cholestatic hepatitis differential diagnosis, in order to avoid unnecessary investigations.

[TORCH serology and group B Streptococcus screening analysis in the population of a maternity]. / Análise das serologias para infeções do grupo TORCH e do rastreio para Streptococcus do grupo B na população de grávidas de uma maternidade.

INTRODUCTION: Systematic screening for TORCH infections and group B Streptococcus (GBS) during pregnancy has been an important factor in the improvement of perinatal care. AIM: To evaluate TORCH serology and GBS carriers state in the population of a maternity, to assess variability with age and nationality and to search for congenital infections. MATERIAL AND METHODS: Non-probabilistic prevalence study. RESULTS: 9508 TORCH and 2639 GBS results were registered. Immunity rate for rubella was 93.3%, higher for Portuguese women; for toxoplasmosis it was 25.7%, higher among the oldest and foreign women; IgG for CMV was positive in 62.4%, no influence of age was found. VDRL was reactive in 0.5%; HBsAg was found to be positive in 2.3%, higher in foreign women. Antibodies for hepatitis C virus and HIV were found respectively in 1.4% and 0.7%. No congenital infections were diagnosed. GBS carrier state was found in 13.9%. DISCUSSION: A high rate of positive IgG was found for rubella reflecting vaccines policy. For toxoplasmosis the low rate of positives means that a high number of pregnant women have to repeat serology during pregnancy with inherent costs. Like in the general population, a high rate of CMV positive mothers was found. For some infections we found that foreign women had different conditions. CONCLUSION: Knowledge on TORCH and GBS state helps to better draw guidelines concerning screening policies during pregnancy.

Objectivo: Avaliar o resultado de serologias para infeções do grupo TORCH e do rastreio para Streptococcus do grupo B (SGB) numa amostra de grávidas de uma maternidade, estudar a influência da idade e da nacionalidade, e identificar casos de infecção congénita.Material e Métodos: Estudo não probabilístico de prevalência de imunidade e infecção durante a gravidez.Resultados: Registámos 9508 serologias TORCH e 2639 resultados de rastreio para SGB. A taxa de imunidade para rubéola foi 93,3%, significativamente mais elevada em portuguesas; 25,7% das mulheres tinham IgG positiva para Toxoplasma goondii; a taxa foi mais elevada nas mulheres mais velhas e entre estrangeiras; encontrámos IgG positiva para vírus citomegálico humano (CMV) em 62,4%; não houve variação com a idade. O VDRL foi reactivo em 0,5%; 2,3% das mães tinham AgHBs positivo, mais frequente nas estrangeiras; 1,4% tinha anticorpos para o vírus da hepatite C e 0,7% tinha VIH positivo. Não houve casos declarados de infeção congénita; 13,9% das mulheres eram portadoras de SGB.Discussão: A elevada taxa de imunidade para a rubéola é resultado da política nacional de vacinação. A baixa taxa de imunidade para a toxoplasmose torna mais dispendioso o acompanhamento das grávidas. A elevada prevalência do CMV está de acordo com o encontrado na comunidade. Para algumas infeções foram encontradas diferenças de acordo com a nacionalidade.Conclusão: O conhecimento da imunidade e infecção na população é um instrumento importante para o planeamento dos rastreios durante a gravidez.