A case of severe systemic type 1 pseudohypoaldosteronism with 10 years of evolution.

Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genotype-phenotype correlations remain uncertain, and the description of the evolution of cases can increase scientific knowledge about the psychomotor development and severity of the different mutations. We report the follow-up for the last 10 years of a patient, with previously unrecognized genetic findings identified. In addition, we reviewed the literature and compared it with other pediatric cases.

HLA DQ2/DQ8 haplotypes and anti-transglutaminase antibodies as celiac disease markers in a pediatric population with type 1 diabetes mellitus.

Objective: Evaluate the celiac disease (CD) markers, within the scope of its screening, in a pediatric population with diagnosis of type 1 diabetes (T1D) at Hospital de Braga (HB) and determine the prevalence of CD in the sample. Reflect on CD screening algorithm applied in this pediatric population. Methods: Retrospective observational study with 94 patients diagnosed with T1D at age 10 years or younger, followed up at the HB Outpatient Diabetology Consultation, including those referred from other hospitals. Record of clinical information, IgA anti-transglutaminase and anti-endomysium and HLA DQ2/DQ8 haplotypes. Results: We obtained positive serological test for CD in 4 patients. This test had 100% sensitivity and specificity. The prevalence of CD was 4.3% (n = 4). Positive HLA screening in 84.6% of patients, with both sensitivity and negative predictive value of 100% and specificity of 16.67%. Diagnosis of CD was made on average 3.40 ± 3.32 years after the diagnosis of TD1. All cases of CD registered non-gastrointestinal manifestations, none had gastrointestinal symptoms. Conclusion: This study proved that there is a higher prevalence of CD in pediatric population with TD1, when compared to general population, and clarified the importance of CD screening. Furthermore, it was observed that serological screening for CD antibodies is an excellent screening test and HLA typing, although not the most suitable first line test, can be useful in excluding the possibility of patients with T1D developing CD.

HLA DQ2/DQ8 haplotypes and anti-transglutaminase antibodies as celiac disease markers in a pediatric population with type 1 diabetes mellitus

ABSTRACT Objectives: Evaluate the celiac disease (CD) markers, within the scope of its screening, in a pediatric population with diagnosis of type 1 diabetes (T1D) at Hospital de Braga (HB) and determine the prevalence of CD in the sample. Reflect on CD screening algorithm applied in this pediatric population. Subjects and methods: Retrospective observational study with 94 patients diagnosed with T1D at age 10 years or younger, followed up at the HB Outpatient Diabetology Consultation, including those referred from other hospitals. Record of clinical information, IgA anti-transglutaminase and anti-endomysium and HLA DQ2/DQ8 haplotypes. Results: We obtained positive serological test for CD in 4 patients. This test had 100% sensitivity and specificity. The prevalence of CD was 4.3% (n = 4). Positive HLA screening in 84.6% of patients, with both sensitivity and negative predictive value of 100% and specificity of 16.67%. Diagnosis of CD was made on average 3.40 ± 3.32 years after the diagnosis of TD1. All cases of CD registered non-gastrointestinal manifestations, none had gastrointestinal symptoms. Conclusion: This study proved that there is a higher prevalence of CD in pediatric population with TD1, when compared to general population, and clarified the importance of CD screening. Furthermore, it was observed that serological screening for CD antibodies is an excellent screening test and HLA typing, although not the most suitable first line test, can be useful in excluding the possibility of patients with T1D developing CD.

Follow-up of infants born to mothers with Graves' disease.

INTRODUCTION: The prevalence of neonatal hyperthyroidism (HN) due to maternal Graves Disease (GD) ranges from 0.1 to 2.7%. It may occur in pregnant women with the following: active DG, after treatment with radioactive iodine, anti-thyroid or thyroidectomy or with a previous child with hyperthyroidism. The aim of our observational study was to evaluate the follow-up of infants born to mothers with GD at a Tertiary Hospital prior to the implementation of a follow-up protocol. METHODS: This was a retrospective observational study using data from the medical records of mothers with a diagnosis of GD and their newborns from January 2013 until May 2018. Newborns were divided into two groups: high and low risk for NH according to maternal TRAb, third trimester treatment and signs of fetal hyperthyroidism. RESULTS: We identified 31 newborns, 58% female; 87% high risk. In none of the newborns was umbilical cord blood collected. In the high risk group, 22% had thyroid function evaluation at day-1, one patient presented with hyperthyroidism and 82% were asymptomatic. Considering the cases with an insufficient blood sample for analysis, 9 consultations would have been spared. We found a significant delay in obtaining the high-risk group results which would have spared 10 appointments. A positive correlation was found between age at outpatient clinic discharge and the number of appointments and the maternal TRAb titer. CONCLUSION: The correct surveillance of pregnancy and newborns with identification of those at high risk is essential to avoid unnecessary consultations and blood analyses that increase parental anxiety and hospital costs. Consequently, a multidisciplinary protocol was created to standardize the approach.

Childhood Hypopigmented Mycosis Fungoides: A Rare Diagnosis.

Primary cutaneous lymphomas (PCL) are rare in pediatrics. Mycosis fungoides (MF) is the most frequent PCL diagnosed in childhood. There are various clinical variants of MF, including the hypopigmented MF (HMF). We present a 5-year-old boy with an 18-month history of progressive, generalized, nonpruritic hypopigmented lesions with central lacy erythema. He had no improvement with emollients. Skin biopsy showed typical features of HMF. He was treated with topical corticosteroids and tacrolimus and narrow-band ultraviolet B (NBUVB) phototherapy, with good response. HMF may mimic multiple skin disorders. Unusual hypopigmented skin lesions should be biopsied. Though phototherapy is effective, recurrence is common.

Severe systemic type 1 pseudohypoaldosteronism: 5 years of evolution / Seudohipoaldosteronismo sistémico grave de tipo 1: 5 años de evolución

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Acute Alithiasic Cholecystitis and Human Herpes Virus Type-6 Infection: First Case.

A three-year-old male child presented with erythematous maculopapular nonpruritic generalized rash, poor feeding, vomiting, and cramping generalized abdominal pain. He was previously healthy and there was no family history of immunologic or other diseases. On examination he was afebrile, hemodynamically stable, with painful palpation of the right upper quadrant and positive Murphy's sign. Laboratory tests revealed elevated inflammatory markers, elevated aminotransferase activity, and features of cholestasis. Abdominal ultrasound showed gallbladder wall thickening of 8 mm with a positive sonographic Murphy's sign, without gallstones or pericholecystic fluid. Acute Alithiasic Cholecystitis (AAC) was diagnosed. Tests for underlying infectious causes were negative except positive blood specimen for Human Herpes Virus Type-6 (HHV-6) by polymerase chain reaction. With supportive therapy the child became progressively less symptomatic with gradual improvement. The child was discharged on the sixth day, asymptomatic and with improved analytic values. Two months later he had IgM negative and IgG positive antibodies (1/160) for HHV-6, which confirmed the diagnosis of previous infection. In a six-month follow-up period he remains asymptomatic. To the best of our knowledge, this represents the first case of AAC associated with HHV-6 infection.

Enuresis en niños del primer ciclo de una unidad de atención primaria en el norte de Portugal / Nocturnal enuresis in children from 5 to 10 years of a personalized health care unit of Portugal's north zone

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Autoimmune Hemolytic Anemia and Hodgkin's Disease: An Unusual Pediatric Association.

Autoimmune hemolytic anemia (AIHA) is a recognized complication of lymphoproliferative disorders. AIHA associated with Hodgkin's disease (HD) is uncommon especially in the pediatric population. The diagnosis of AIHA is usually associated with HD at the time of initial presentation or during the course of disease, but it could precede it by years to months. In adults the association of AIHA and HD is more frequent in advanced stages and in the nodular sclerosis and mixed cellularity type HD. Warm immune hemolytic anemia is mainly controlled with steroids and chemotherapy. We report a case of a pediatric patient with direct antiglobulin positive test at the diagnosis of a late relapse of stage III B mixed cellularity type HD.