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PubMedDate not supplied

Costello syndrome: report of a new case with choanal atresia and fatal outcome.

We describe a girl with motor and mental retardation, macrocephaly, a "coarse" face, choanal atresia, postnatal feeding difficulty, redundant skin with deep palmar and plantar creases, and histopathological evidence of altered elastic fibers, who died at the age of 11 months. We believe this represents another case of Costello syndrome. Lacking papillomata, she had choanal atresia and underwent a fatal outcome at an early age. The differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay and with cardio-facio-cutaneous and Noonan syndromes is discussed.

Abnormalities, Multiple↗
PubMed1997

[Description of a case of Reye's-like syndrome with fatal outcome].

A Reye Like Syndrome case occurred in a twelve year-old little girl with a previous familiar history is reported. The little patient was admitted in the pediatric ward for fever, vomiting and aspecific respiratory symptoms and developed very quickly a severe metabolic acidosis, alterations of consciousness, hypoxia, tissular hypoperfusion, multiple organ failure (MOF) and a fatal outcome. The postmortem diagnosis pointed out a methyl malonic acidaemia, a fairly frequent cause of acute metabolic distress, which may occur also in prepuberal age. The correct diagnostic and therapeutic approach of these cases is stressed since they need a prompt and careful monitoring in intensive care unit and a close cooperation among pediatricians, intensive care specialists and the nearest centre for the study of metabolic diseases.

Child↗
PubMed1998

Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure.

UNLABELLED: Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct relatively mild clinical picture in a single patient. We describe another patient with isolated partial MCC deficiency who suffered from failure to thrive, muscular hypotonia and progressive respiratory insufficiency with fatal outcome at the age of 6.5 months. MCC deficiency was suspected at 3 months of age on the basis of mildly elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine and confirmed by enzyme analysis in lymphocyte and fibroblast homogenates. Residual MCC activity in lymphocytes was 25% of the mean normal value. Residual activity in fibroblasts was lower than in lymphocytes (3.8% of mean normal) and not significantly different from that in patients with complete MCC deficiency. However, the residual incorporation of 14C-isovalerate into macromolecules in intact fibroblasts, was clearly higher (28% of mean normal) than in fibroblasts with complete MCC deficiency (<4%). In both patients with partial deficiency the residual MCC activity was higher in lymphocytes than in fibroblasts. Clinical symptoms and signs in our patient attributable to MCC deficiency include muscular hypotonia, failure to thrive (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate brain atrophy. The clinical presentation was more severe than in many patients with complete MCC deficiency. Dietary therapy was biochemically effective as shown by normalization of organic acid excretion, however, had no effect on the CNS symptoms. CONCLUSION: We speculate that the severity of the disease could be related primarily to deficiency of MCC activity in the brain. Variable MCC activity among various organs may explain the peculiar clinical picture in this patient.

Brain↗
PubMed1998

Tricuspid valve endocarditis due to a moderately susceptible Streptococcus constellatus: persistent bacteremia and fatal outcome despite penicillin plus gentamicin therapy.

An intravenous drug-user developed tricuspid valve endocarditis caused by a moderately susceptible strain of Streptococcus constellatus. Bacteremia and fever persisted despite penicillin and gentamicin therapy. Eventually, he developed massive hemoptysis and expired. We believe that the propensity of this group of organisms for suppurative complications and the suboptimal antibiotic susceptibility may have contributed to the failure of medical therapy and the fatal outcome. Similar cases may benefit from a higher dose of penicillin or early surgical intervention.

Adult↗
PubMed2004

Fatal outcome of a hypersensitivity reaction to paclitaxel: a critical review of premedication regimens.

Hypersensitivity reactions (HSRs) to paclitaxel are frequently encountered in patients receiving this antitumour drug. Administration of histamine H1- and H2-receptor antagonists and corticosteroids has been shown to reduce significantly the risk of developing an HSR in patients receiving taxanes. In this case report, we describe the fatal outcome of an HSR in a patient receiving paclitaxel despite short-course premedication. The level of evidence supporting the short-course i.v. premedication schedule is challenged, as it is not compatible with the pharmacokinetic properties of dexamethasone.

Anti-Inflammatory Agents↗
PubMed2003

Fatal outcome of constrictive pericarditis in rheumatoid arthritis.

This is a report of a 39-year-old patient diagnosed with seropositive rheumatoid arthritis at the age of 17. The patient died 2 years after the onset of extra-articular cardiac symptoms. This case demonstrates the devastating course of progressive constrictive pericarditis under sole medical therapy and emphasizes the importance of early radical pericardectomy to avoid progression of disease and secondary complications with fatal outcome. Further, we discuss risk factors, diagnostic caveats, diagnostic tests and therapy of hemodynamically relevant contrictive pericarditis.

Adult↗
PubMedDate not supplied

Anticonvulsant hypersensitivity syndrome with fatal outcome.

Anticonvulsant hypersensitivity syndrome is a disease characterized by multisystemic involvement, fever, lymphadenopathy, mucocutaneous rash, hypertransaminasemia and peripheral eosinophilia. This rare syndrome seems to be related to arene oxide metabolites of aromatic anticonvulsants (phenytoin, phenobarbital and carbamazepine). Anticonvulsant hypersensitivity seems to be much more aggressive in patients undergoing concomitant radiotherapy. We report a case of anticonvulsant hypersensitivity syndrome developing toxic epidermal necrolysis with fatal outcome in a patient receiving cranial irradiation and aromatic anticonvulsants for seizure prophylaxis. This report attempts to emphasize the importance of an early diagnosis of this syndrome, the knowledge of the common cross-reactivity among the major anticonvulsants and the need for an appropriate measurement of the true benefits of seizure prophylaxis in patients with brain tumors.

Aged↗
PubMed2005

Bilateral tension pneumothorax following rigid bronchoscopy: a report of an epignathus in a newborn delivered by the EXIT procedure with a fatal outcome.

We describe a case of a newborn baby with a prenatal diagnosis of an epignathus (oropharyngeal teratoma). With the potential for airway problems at birth, he was delivered by an elective EXIT (Extra Utero Intrapartum Treatment) procedure at 38 weeks of pregnancy. The airway was secured and rigid bronchoscopy performed. Initially he was stable, but developed cardiorespiratory difficulties 40 minutes after birth and died from a cardiac arrest 17 minutes later. Tension pneumothorax is a devastating complication that can occur with lower airway manipulation for anaesthesia and rigid bronchoscopy. The addition of positive pressure during mechanical ventilation converts the pneumothorax into a tension pneumothorax. The possibility of tension pneumothorax should be entertained in a mechanically ventilated patient whose ventilatory pressures are increasing, with diminishing cardiac output. A complicated case is presented, where the diagnosis was missed with a fatal outcome.

Bronchoscopy↗
PubMedDate not supplied

Fatal outcome of two siblings with idiopathic arterial calcification of infancy diagnosed in utero.

Idiopathic arterial calcification of infancy (IACI) is a rare condition characterized by extensive arterial calcification and stenoses of large and medium-sized arteries. Its complications include severe cardiac failure diagnosed in utero as hydrops fetalis or postnatally as respiratory failure combined with cardiomegaly. Two newborn male siblings with IACI are described. In utero, echocardiography revealed poor ventricular function and hyperechogenic foci in arterial walls. Both had fatal outcome during the newborn period. At autopsy, medial calcifications in the walls of great arteries, in coronary arteries, in glomeruli, and in subendocardium were detected. In addition, an inflammatory process in the shoulder joint was determined to be large periarticular tissue calcifications. Because of an autosomal recessive inheritance pattern of IACI, fetal echocardiography is recommended in future pregnancies of all affected families.

Calcinosis↗