Mosaic Trisomy 18 in a Five-Month-Old Infant - Case Report

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five month old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy.Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealedmosaic trisomy 18with trisomy in 90%of peripheral lymphocytes and 17%of skin fibroblasts.This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.

Severe Megaloblastic Anaemia in an Infant

Vitamin B 12 or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia. In this article, the authors describe a 10-month-old infant admitted for vomiting, refusal to eat and prostration. The infant was exclusively breastfed and diffi culties in introduction of new foods were reported. Failure to thrive since 5 months of age was also noticed. Laboratory evaluation revealed severe normocytic normochromic anaemia and cobalamin defi cit. A diagnosis of α-thalassemia trait was also made. Maternal investigation showed autoimmune pernicious anaemia. This case shows the severity of vitamin B 12 deficiency and the importance of adopting adequate and precocious measures in order to prevent potentially irreversible neurologic damage.

Intervenção Percutânea Urgente no Enfarte Agudo do Miocárdio por Lesão do Tronco Comum

BACKGROUND: ST-elevation myocardial infarction (STEMI) with the culprit lesion in the left main artery is a rare cardiac emergency with a poor prognosis. OBJECTIVE: Review and prognosis evaluation of primary percutaneous coronary intervention (PCI) performed in the setting of STEMI with left main occlusion in a single high-volume center. METHODS: Of the 483 primary or rescue PCIs performed and followed in our hospital during a 24-month period (August 2004 to July 2006), we retrospectively evaluated those involving left main procedures and analyzed in-hospital mortality and major cardiac events (MACE) in a 12-month follow-up. We found nine patients, age 68 +/- 9 years, five male, seven with multivessel disease and two with isolated left main disease. Rescue PCI was performed in three patients and primary PCI in the others. RESULTS: Seven patients presented in cardiogenic shock and two were classified in Killip class II on admission. Inotropic drugs, intra-aortic balloon pump and abciximab were used in eight patients. Drug-eluting stents were used in six patients, bare-metal stents in two, and isolated balloon angioplasty in one. Five patients (55%) died in the hospital and the four discharged home (two of them aged 81 and 82 years) were still alive and free from MACE at 12-month follow-up. CONCLUSIONS: Clinical presentation of STEMI with the culprit lesion in the left main artery was very severe. During PCI, drug-eluting stents, intra-aortic balloon pump and abciximab were used in almost all patients. This entity had a high mortality rate even though primary PCI was performed. Those who survived had a good mid-term prognosis.

Norovírus Associated Encephalopathy

clinical presentation is self limited. It is classified into five groups (genogroups I through V). There are numerous reports of neurologic complications, namely afebrile seizures, but only two reports of associated encephalopathy. Case Report: A 12 month old girl with previous history of a pneumonia treated with amoxicillin-clavulanic acid and clarythromycin, presented in our emergency department with strabismus, ataxia for 3 days, later associated with vomiting and diarrhea. On admission she had ataxia and an episode of strabismus, but her later neurologic exam was normal. Laboratory data revealed: 10,9 g/dL hemoglobin, 11.200/μL leukocytes, 29,1% neutrophils and 65,2% lymphocytes, 488.000/μL platelets and negative CRP. The brain MRI showed middle ear, maxillary sinus and ethmoidal opacification, with no other abnormalities. During the first day of admission she had a tonic (?) seizure for 20 minutes. CSF analysis showed 5,6 cells/μL, 100% lymphocytes, 80 mg/dL glucose and 154,1 mg/dL protein. The EEG revealed short duration paroxystic activity located to the vertex. She was treated with acyclovir, ciprofloxacin, cefthriaxone and phenytoin. Her symptoms resolved by the third day of admission. Blood samples were tested for numerous pathogens, including serology for Borrelia, which was positive for IgG but negative for IgM. Fecal sample analysis revealed positive PCR for norovirus, although it was negative in CSF samples. IL-6 was measured in the CSF and was negative (5,8 pg/mL). She had a history of recurrent otitis media and pernieal candidiasis, which led to a detailed immune function study, which showed Immunology tests revealed diminished IgA (< 0,244 g/L) and absent antibody response to vaccinations. Since she was only 13 months old when she was tested, only follow up will determine the relevance of these values. Follow up at two years of age showed no delays and a normal development. Conclusion: Norovirus encephalitis is a rare entity, although gastrointestinal infection with this agent is relatively common. Here we present a case of a probable norovirus associated encephalopathy, although PCR for norovirus was negative in CSF samples and there was no CSF cytokine increase. It was not associated with adverse neurologic outcome and so far her development is normal, unlike the evolution described in previous case reports.

Incontinentia Pigmenti in the Neonatal Period

Incontinentia pigmenti (IP) is a rare multisystem disease, X linked dominant disorder. As all X linked dominant diseases, it is usually male-lethal. Female newborn admitted to the neonatal intensive care unit on the fi rst day of life was diagnosed as having probable herpetic infection with vesicular skin lesions distributed on upper right limb and inferior limbs. Family history showed that her 22-year-old mother had hypopigmented lesions on the lower limbs and her 13-month-old sister had hyperpigmented lesions on the trunk and limbs. In newborns, herpes infection emerges as the principal diagnosis of vesicular rash, due to the importance of precocious diagnosis and treatment. Other hypothesis must be considered in a newborn with vesicobullous rash, such as IP.

Mastocytosis: a Rare Case of Anaphylaxis in Paediatric Age and Literature Review

The term “mastocytosis” denotes a heterogeneous group of disorders characterised by abnormal growth and accumulation of mast cells (MC) in one or more organ systems. Symptoms result from MC chemical mediator’s release, pathologic infiltration of neoplastic MC in tissues or both. Multiple molecular, genetic and chromosomal defects seem to contribute to an autonomous growth, but somatic c-kit D816V mutation is more frequently encountered, especially in systemic disease. We present a literature review of mastocytosis and a rare case report of an 18 month-old-girl with a bullous dermatosis, respiratory distress and anaphylaxis, as clinical manifestations of mastocytosis. The developments of accepted classification systems and novel useful markers allowed a re-evaluation and updating of the classification of mastocytosis. In paediatric age cutaneous forms of disease prevail and may regress spontaneously. SM is more frequently diagnosed in adults and is a persistent(clonal) disease of bone marrow. The clinical course in these patients is variable.Today diagnostic criteria for each disease variant are reasonably well defined. There are, however, peculiarities, namely in paediatric age, that makes the diagnostic approach difficult. Systemic disease may pose differential diagnostic problems resulting from multiple organ systems involvement. Coversly, the “unexplained” appearance of those symptoms with no skin lesions should raise the suspicion of MC disease. This case is reported in order to stress the clinical severity and difficult diagnostic approach that paediatric mastocytosis may assume.

Newborn Female with a Right Groin Lump

A 1 month old girl presented to the emergency department with a right groin lump and frequent crying. White and red blood cell counts were within the normal range. In addition, the ESR, CRP,liver and renal function tests were also normal.

Fulminant Hepatitis E in a Pregnant Woman

Hepatitis E is an inflammatory liver disease caused by hepatitis E virus (HEV) infection, which is endemic in China, India, Nepal, and in several Asian and African countries, where the prevalence can be as high as 50%. In non-endemic countries, an increasing number of non-travel associated HEV has been reported in recent years, particularly in Europe. The authors describe the clinical case of a puerperal 24-year-old woman from Pakistan admitted to our Tertiary Care Medical Center with acute hepatic failure developed during the third trimester of her pregnancy. She was icteric with grade III encephalopathy and hypothermia. Laboratory values showed significant AST, ALT and LDH elevations of twelve times the upper normal limit, and total bilirubin was significantly elevated (41.20 mg/dL). Prothrombin time was prolonged (4 s) and factor V activity was diminished (15.1%). Extracorporeal albumin dialysis was initiated, but clinical deterioration occurred within 48 h, so she underwent OLT at day 4 post-admission. Severe forms of HEV are known to be more pronounced in pregnant women. Even though most of the described cases of acute hepatic failure associated to HEV during pregnancy had a favorable clinical course, some cases of fulminant liver failure and death are described. It is unknown whether liver transplant outcomes in this setting are different from other causes of acute liver failure. To our knowledge, this is the first case report in Portugal from a pregnant woman who developed hepatic failure due to fulminant hepatitis E that underwent successful liver transplantation.

Multiple Haemangiomas, Diaphragmatic Eventration and Beckwith-Wiedemann Syndrome: An Unusual Association

A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol. The surgical correction of diaphragmatic eventration was crucial to a better outcome.

Autism Spectrum Disorder Secondary to Enterovirus Encephalitis

Millions of children are infected by enteroviruses each year, usually exhibiting only mild symptoms. Nevertheless, these viruses are also associated with severe and life-threatening infections, such as meningitis and encephalitis. We describe a 32-month-old patient with enteroviral encephalitis confirmed by polymerase chain reaction in cerebrospinal fluid, with unfavorable clinical course with marked developmental regression, autistic features, persistent stereotypes and aphasia. She experienced slow clinical improvement, with mild residual neurologic and developmental deficits at follow-up. Viral central nervous system infections in early childhood have been associated with autism spectrum disorders but the underlying mechanisms are still poorly understood. This case report is significant in presenting a case of developmental regression with autistic features and loss of language improving on follow-up. To our knowledge, this is the first published report of enterovirus encephalitis leading to an autism spectrum disorder.

Routine Transthoracic Echocardiography in a General Intensive Care Unit: an 18 Month Survey in 704 Patients

The authors analyzed 704 transthoracic echocardiographic (TTE) examinations, performed routinely to all admitted patients to a general 16-bed Intensive Care Unit (ICU) during an 18-month period. Data acquisition and prevalence of abnormalities of cardiac structures and function were assessed, as well as the new, previously unknown severe diagnoses. A TTE was performed within the first 24 h of admission on 704 consecutive patients, with a mean age of 61.5+/-17.5 years, ICU stay of 10.6+/-17.1 days, APACHE II 22.6+/-8.9, and SAPS II 52.7+/-20.4. In four patients, TTE could not be performed. Left ventricular (LV) dimensions were quantified in 689 (97.8%) patients, and LV function in 670 (95.2%) patients. Cardiac output (CO) was determined in 610 (86.7%), and mitral E/A in 399 (85.9% of patients in sinus rhythm). Echocardiographic abnormalities were detected in 234 (33%) patients, the most common being left atrial (LA) enlargement (n=163), and LV dysfunction (n=132). Patients with these alterations were older (66+/-16.5 vs 58.1+/-17.4, p<0.001), presented a higher APACHE II score (24.4+/-8.7 vs 21.1+/-8.9, p<0.001), and had a higher mortality rate (40.1% vs 25.4%, p<0.001). Severe, previously unknown echocardiographic diagnoses were detected in 53 (7.5%) patients; the most frequent condition was severe LV dysfunction. Through a multivariate logistic regression analysis, it was determined that mortality was affected by tricuspid regurgitation (p=0.016, CI 1.007-1.016) and ICU stay (p<0.001, CI 1-1.019). We conclude that TTE can detect most cardiac structures in a general ICU. One-third of the patients studied presented cardiac structural or functional alterations and 7.5% severe previously unknown diagnoses.

Regulatory Cells, Cytokine Pattern and Clinical Risk Factors for Asthma in Infants and Young Children with Recurrent Wheeze

Several risk factors for asthma have been identified in infants and young children with recurrent wheeze. However, published literature has reported contradictory findings regarding the underlying immunological mechanisms. OBJECTIVES: This study was designed to assess and compare the immunological status during the first 2 years in steroid-naive young children with >or= three episodes of physician-confirmed wheeze (n=50), with and without clinical risk factors for developing subsequent asthma (i.e. parental asthma or a personal history of eczema and/or two of the following: wheezing without colds, a personal history of allergic rhinitis and peripheral blood eosinophilia >4%), with age-matched healthy controls (n=30). METHODS: Peripheral blood CD4(+)CD25(+) and CD4(+)CD25(high) T cells and their cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4), GITR and Foxp3 expression were analysed by flow cytometry. Cytokine (IFN-gamma, TGF-beta and IL-10), CTLA-4 and Foxp3 mRNA expression were evaluated (real-time PCR) after peripheral blood mononuclear cell stimulation with phorbol 12-myristate 13-acetate (PMA) (24 h) and house dust mite (HDM) extracts (7th day). RESULTS: Flow cytometry results showed a significant reduction in the absolute number of CD4(+)CD25(high) and the absolute and percentage numbers of CD4(+)CD25(+)CTLA-4(+) in wheezy children compared with healthy controls. Wheezy children at a high risk of developing asthma had a significantly lower absolute number of CD4(+)CD25(+) (P=0.01) and CD4(+)CD25(high) (P=0.04), compared with those at a low risk. After PMA stimulation, CTLA-4 (P=0.03) and Foxp3 (P=0.02) expression was diminished in wheezy children compared with the healthy children. After HDM stimulation, CTLA-4 (P=0.03) and IFN-gamma (P=0.04) expression was diminished in wheezy children compared with healthy children. High-risk children had lower expression of IFN-gamma (P=0.03) compared with low-risk and healthy children and lower expression of CTLA-4 (P=0.01) compared with healthy children. CONCLUSIONS: Although our findings suggest that some immunological parameters are impaired in children with recurrent wheeze, particularly with a high risk for asthma, further studies are needed in order to assess their potential as surrogate predictor factors for asthma in early life.