[Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood].

Klinefelter syndrome (KS) is the most frequent chromosomal aneuploidy with a prevalence of 1: 500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in childhood and adolescence. We report the anamnestic, clinical and auxological findings of 14 KS patients diagnosed in paediatric age. 3/14 patients (21%) with KS were diagnosed in prenatal age by amniocentesis, 1 patient was diagnosed at birth due to genital ambiguity and the remaining 10/14 (71.4%) were diagnosed at a chronological age younger than 15 years old for a clinical picture characterized by a peculiar cognitive and behavioral pattern or genital anomalies and abnormalities of pubertal development. The classical karyotype 47 XXY was present in 10/14 subjects (72%), a mosaic form (46 XY/47 XXY) was present in 2/14 (14%) and a complex aneuploidy (48 XXYY and 48 XXXY) was present in the remaining 2/14 (14%) patients. All KS patients diagnosed in childhood and adolescence (10/14 =71.4 %) showed a stature taller than the respective target height and also the predicted final height (calculated from a chronological age older than 7 years old) and the reached final height were significantly taller than target height. Conclusion: according to our retrospective data we can assert that KS in paediatric age is characterized by a stature taller than target height, often associated with a characteristic cognitive and behavioral pattern while the typical clinical signs and symptoms of KS are lacking and manifest only in late adolescence or adulthood

Evans Syndrome: A case report

Evans syndrome, a combined clinical condition of autoimmune haemolytic anaemia (AHA) and idiopathic thrombocytopaenic purpura (ITP) and has non-specific pathogenesis. The clinical cases are extremely rare, since only 4% of AHA or ITP are incorporated with Evans. It is distinguished from differentials, such as lupus, IgA deficiency, and acquired immunodeficiency, by peripheral blood film, bone marrow, Coombs test, and coagulation profile. A case of adult female from Pabna, Bangladesh is documented in this report. She complained of high grade intermittent fever, exertional dyspnea, icteric skin and sclera. Other features included mild splenomegaly, dark urine, and profuse sweating after fever. Investigation reports were consistent with AHA and ITP, with normal coagulation and viral profile. However, the patient was treated with corticosteroids, platelet and blood transfusion. And in follow-up visits, there was a pattern of gradual decline in erythrocyte sedimentation rate (ESR) and reticulocyte count, with normalization of haemoglobin, red cell, and white cell count. No association with other diseases was found in this case. Bangladesh Med J. 2018 Jan; 47 (3): 37-4

[Turner-like syndrome: a case report].

A prepubescent 11 year-old girl came to our attention for short stature. Auxological evaluation showed peculiar phenotype. In order to exclude Turner syndrome standard karyotype was performed with normal result. Because of anemia and selective deficiency of the erythroid lineage further investigations were performed and a diagnosis of Blackfan-Diamond anemia was made

[A not very essential obesity: the Rohhad syndrome. Description of two cases and review of the literature].

Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare and complex pediatric disorder . Children typically show ROHHAD after the first years of life with rapid weight gain and subsequently autonomic nervous system dysregulation (altered pain perception, pupillary dysfunction, hypothermia and bradycardia); alveolar hypoventilation with risk of cardiorespiratory arrest and hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, growth hormone and corticotrophin deficiency). Tumours of neural crest origin, such as ganglioneuroblastoma and ganglioneuronoma, are reported in 33% of the patients and may be found in the chest or abdomen. Here we describe two girls who presented with rapid weight gain, at the age of 5 and 9 years respectively. The first was admitted due to obesity and central hypothyroidism. After two months she rapidly developed a clinical picture characterized by thermal dysregulation, hypodipsia and severe hypernatriemia, hypertrigliceridemia, alveolar hypoventilation supported by mechanical ventilation. The second presented with rapid-onset obesity and a mild hyperprolactinemia. After three months of follow- up she was admitted due to a clinical picture of hypothermia, seizures and hyponatremia. Subsequentely she developed altered water balance (severe hypernatremia) and severe hypoventilation . Chest CT and MR imaging showed a posterior mediastinal mass. Endocrinological investigation showed corticotrophin deficiency and central hypothyroidism treated with specific replacement therapies. Conclusions: On the basis of our experiences we can infer that it is necessary perform specific further investigations of hypothalamic function in all the children with rapid onset obesity in order to early prevent the catastrophic consequences that may occur in this syndrome

Italian patients with hemoglobinopathies exhibit a 5-fold increase in age-standardized lethality due to SARS-CoV-2 infection.

Since the beginning of the COVID-19 pandemic, concerns have been expressed worldwide for patients with hemoglobinopathies and their vulnerability to SARS-CoV-2 infection. Data from Lebanon confirmed a role of underlying comorbidities on COVID-19 severity, but no deaths among a cohort of thalassemia patients.1 Patients with sickle cell disease (SCD) displayed a broad range of severity after SARS-CoV-2 infection, spanning from a favorable outcome unless pre-existing comorbidities (UK cohort)2 to high case mortality in US.3 History of pain, heart, lung, and renal comorbidities was identified as risk factors of worse COVID-19 outcomes by the US SECURE-SCD Registry.4 While Italy experienced a death rate in the general population among the highest in the world, preliminary data from the first wave of the pandemic showed a lower than expected number of infected thalassemia patients (updated up to April 10, 2020), likely due to earlier and more vigilant self-isolation compared to the general population.

Klinefelter syndrome: clinical and auxological features of 14 patients diagnosed in childhood

Klinefelter syndrome (KS) is the most frequent chromosomal aneuploidy with a prevalence of 1: 500 men but it often remains a largely undiagnosed condition and only 10% of cases are identified in childhood and adolescence. We report the anamnestic, clinical and auxological findings of 14 KS patients diagnosed in paediatric age. 3/14 patients (21%) with KS were diagnosed in prenatal age by amniocentesis, 1 patient was diagnosed at birth due to genital ambiguity and the remaining 10/14 (71.4%) were diagnosed at a chronological age younger than 15 years old for a clinical picture characterized by a peculiar cognitive and behavioral pattern or genital anomalies and abnormalities of pubertal development. The classical karyotype 47 XXY was present in 10/14 subjects (72%), a mosaic form (46 XY/47 XXY) was present in 2/14 (14%) and a complex aneuploidy (48 XXYY and 48 XXXY) was present in the remaining 2/14 (14%) patients. All KS patients diagnosed in childhood and adolescence (10/14 =71.4 %) showed a stature taller than the respective target height and also the predicted final height (calculated from a chronological age older than 7 years old) and the reached final height were significantly taller than target height. Conclusion: according to our retrospective data we can assert that KS in paediatric age is characterized by a stature taller than target height, often associated with a characteristic cognitive and behavioral pattern while the typical clinical signs and symptoms of KS are lacking and manifest only in late adolescence or adulthood

La rappresentazione del sé corporeo in condizioni di patologie croniche diversamente trattate

Il contributo presenta uno studio sulla rappresentazione del sé corporeo in bambini con patologie croniche diversamente trattate, al fine di esplorare possibili risorse funzionali alla gestione della condizione di rischio costituita dalla patologia; nello specifico, gli indicatori delle risorse vanno individuati, su un piano qualitativo, nell’adeguatezza dell’immagine del corpo, nell’integrità dell’immagine di sé, nell’integrazione di mappe cognitive e, su un piano quantitativo, nel quoziente di maturità cognitiva. Lo studio ha previsto il coinvolgimento di un gruppo di 52 bambini (età media 10 anni) di cui un 50% con patologie croniche che prevedono trattamenti invasivi, caratterizzati da "pratiche" sul corpo costanti che alterano la serenità del quotidiano (es. trasfusioni, cateteri venosi, iniezioni di insulina, microinfusioni), l’altro 50% con cardiopatie sottoposti a trattamenti solo farmacologici. L’indagine ha previsto l’uso del Disegno della Figura Umana. I risultati, pur mostrando, in generale, livelli medi di adeguatezza e di integrità corporea, sottolineano differenze statisticamente significative in relazione alla tipologia di trattamento, laddove i bambini sottoposti a trattamenti invasivi presentano livelli più elevati sia di adeguatezza che di integrità corporea. Relativamente al quoziente di maturità, invece, non si evidenziano differenze tra i due gruppi, sottolineando la presenza di alcune risorse cognitive funzionali all’adattamento alla patologia

A not very essential obesity: the Rohhad Syndrome. Description of two cases and review of the literature

Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare and complex pediatric disorder . Children typically show ROHHAD after the first years of life with rapid weight gain and subsequently autonomic nervous system dysregulation (altered pain perception, pupillary dysfunction, hypothermia and bradycardia); alveolar hypoventilation with risk of cardiorespiratory arrest and hypothalamic dysfunction (central diabetes insipidus, hypothyroidism, growth hormone and corticotrophin deficiency). Tumours of neural crest origin, such as ganglioneuroblastoma and ganglioneuronoma, are reported in 33% of the patients and may be found in the chest or abdomen. Here we describe two girls who presented with rapid weight gain, at the age of 5 and 9 years respectively. The first was admitted due to obesity and central hypothyroidism. After two months she rapidly developed a clinical picture characterized by thermal dysregulation, hypodipsia and severe hypernatriemia, hypertrigliceridemia, alveolar hypoventilation supported by mechanical ventilation. The second presented with rapid-onset obesity and a mild hyperprolactinemia. After three months of follow- up she was admitted due to a clinical picture of hypothermia, seizures and hyponatremia. Subsequentely she developed altered water balance (severe hypernatremia) and severe hypoventilation . Chest CT and MR imaging showed a posterior mediastinal mass. Endocrinological investigation showed corticotrophin deficiency and central hypothyroidism treated with specific replacement therapies. Conclusions: On the basis of our experiences we can infer that it is necessary perform specific further investigations of hypothalamic function in all the children with rapid onset obesity in order to early prevent the catastrophic consequences that may occur in this syndrome

Evans Syndrome: A case report

We describe a case of a 14-years old caucasian female affected by autoimmune hemolytic anemia and thrombocytopenia successfully treated with intravenous immunoglobulin and steroids. Nevertheless, neutropenia occurred during follow-up period. Positivity of direct antiglobulin test and sieric anti-neutrophil antibodies suggested the diagnosis of Evans syndrome trilineage