ABSTRACT
We present the case of a newborn with Costello syndrome who died due to heart arrhythmia. In the autopsy, a neuroblastoma was found. The male patient was born at term. During the first hours of life, he developed severe respiratory failure requiring mechanical ventilation. Phenotypic features included cranial and facial dysmorphia, short thorax, tachycardia, heart murmur, abdominal distention, hepatomegaly, short extremities, widespread petechias, diminished muscular tone, ungueal hypoplasia in toes, bilateral cryptorchidia, and generalized redundant skin. In the evolution he presented several sepsis episodes, difficulty for feeding, supraventricular arrhythmia, two heart arrests, and opisthotonos, and died at 65 days of life due to heart arrhythmia. The autopsy revealed hydrocephaly, a neuroblastoma, and a heart without anatomic alterations. Costello syndrome was diagnosed. Costello syndrome is not frequent; in this patient, the diagnosis was suspected in life and was confirmed postmortem, the topic is reviewed, the important aspect in this case is the association with a neuroblastoma.
Subject(s)
Abnormalities, Multiple , Neuroblastoma/congenital , Respiratory Insufficiency/congenital , Thoracic Neoplasms/congenital , Fatal Outcome , Humans , Infant, Newborn , Male , SyndromeABSTRACT
INTRODUCTION: A case of child with acute pancreatitis associated with typhoid fever is reported herein. CASE REPORT: A four years old child was admitted to the pediatric emergency room with an acute abdomen and fever. He was submitted to a diagnostic laparotomy and mesenteric adenitis was the only finding. During the postoperative period, he persisted with abdominal pain and fever. Laboratory studies and abdominal ultrasonography revealed an acute pancreatitis. Also, Salmonella typhi was isolated from blood and stool cultures. Treatment for pancreatitis included nasogastric catheter and total parenteral nutrition. Typhoid fever was treated with ampicillin. Thereafter, his clinical course was uneventful and he was discharged 13 days after being admitted. CONCLUSIONS: Acute pancreatitis has been associated with typhoid fever. To the best of our knowledge, this is the youngest patient reported in the literature with this association. Possible pathophysiologic mechanisms are reviewed.
Subject(s)
Abdomen, Acute/etiology , Pancreatitis/etiology , Typhoid Fever/complications , Acute Disease , Ampicillin/therapeutic use , Bacteremia/microbiology , Child, Preschool , Feces/microbiology , Humans , Male , Mesenteric Lymphadenitis/etiology , Pancreatitis/diagnostic imaging , Pancreatitis/physiopathology , Pancreatitis/therapy , Parenteral Nutrition, Total , Penicillins/therapeutic use , Salmonella typhi/isolation & purification , Tomography, X-Ray Computed , Typhoid Fever/diagnosis , Typhoid Fever/drug therapy , UltrasonographyABSTRACT
The case of a 12-year-old boy with the diagnosis of intrahepatic biliary duct cystadenoma is presented. A critical review of the literature revealed less than 100 cases described at present. Differential diagnosis with other intrahepatic cystic lesions of varied etiology is discussed too.
Subject(s)
Adenoma, Bile Duct/diagnosis , Bile Duct Neoplasms/diagnosis , Bile Ducts, Intrahepatic , Cystadenoma/diagnosis , Adenoma, Bile Duct/pathology , Adenoma, Bile Duct/surgery , Bile Duct Neoplasms/pathology , Bile Duct Neoplasms/surgery , Bile Ducts, Intrahepatic/pathology , Bile Ducts, Intrahepatic/surgery , Child , Cystadenoma/pathology , Cystadenoma/surgery , Humans , MaleABSTRACT
It is presented the clinical record of a female newborn of 39 weeks of gestational age, with birth weight of 4600 g, with diaphragmatic palsy eight days after birth. Were realized diaphragmatic plicature and the clinical course was without any complication. Were reviewed the causes of diaphragmatic palsy and was described the relationship, with vein cannulation for parenteral nutrition.
Subject(s)
Bloodletting/adverse effects , Parenteral Nutrition , Phrenic Nerve/injuries , Respiratory Paralysis/etiology , Combined Modality Therapy , Female , Humans , Infant, Newborn , Jugular Veins , Respiratory Paralysis/diagnosis , Respiratory Paralysis/therapyABSTRACT
We studied 30 full-term newborn infants, admitted to the newborn intensive care unit of "Manuel Gea González" General Hospital between January 1, 1989 and December 31, 1990. All infants had 5-minute Apgar score of 5 or less. The disturbances related to: brain, heart, liver, bowel, coagulation system, calcium and glucose homeostasis were investigate in all cases. Of the 30 infants, 29 (97%) had developed 1 to 7 abnormalities in the systems studied. Most of them had from 2 to 5 abnormalities (77%). The commonest disturbance was brain involvement in 22 cases (73%); metabolic and coagulation changes had also been observed, while heart disturbances were less common. There was no significant difference between the intensity and number of systemic abnormalities observed in these infants and the alterations seen during pregnancy, labor, delivery, administration of anesthesia and Apgar score. These observations suggest a striking relationship between asphyxia in the newborn infant and the development of systemic disturbances.
Subject(s)
Asphyxia Neonatorum/complications , Female , Humans , Infant, Newborn , MaleABSTRACT
A total of 20 healthy premature newborns, with a gestational age between 32 and 36 weeks were studied for a year. The objective of the study was to determine the utility of the excreted sodium excretion fraction test (FENa) as a parameter used to evaluate renal function in this type of patients, using comparatively the excretion of creatinine. Of the patients studied, 12 were females and the rest males; the medium gestational age was 35.1 weeks (ranging from 32 to 36 weeks); their average weight at birth was 1,943 g (ranging from 1,372 to 2,626 g); serum creatinine varied from 0.3 to 1.2 mg/dL; urinary sodium was measured at 5.37 and 38 mEg/L; the excretion of creatinine was measured at 8.26 +/- 5.18 mL/min/1.73 m2. The FENa varied between 0.1 and 1.71% (x = 0.78 +/- 0.48). The results obtained showed that the FENa is a useful parameter to evaluate renal function in premature newborns with a gestational age between 32 and 36 weeks.
Subject(s)
Infant, Premature/physiology , Kidney/physiology , Sodium/urine , Creatinine/blood , Creatinine/urine , Female , Follow-Up Studies , Gestational Age , Humans , Infant, Newborn , Male , Sodium/bloodABSTRACT
Six patients, four still in a pediatric age, included in two family cases of pigmenti incontinence are presented; there exists a previous family history of this disease in cases which have not been considered before. A review of the literature with a discussion of the clinical aspects observed in this group of patients was carried out.
Subject(s)
Incontinentia Pigmenti/diagnosis , Adult , Biopsy, Needle , Female , Humans , Incontinentia Pigmenti/genetics , Incontinentia Pigmenti/pathology , Infant , Infant, Newborn , Skin/pathology , Thigh , ThoraxABSTRACT
We analyzed 56 cases of children with diagnosis of poisoning, which were attendant at the pediatric emergency room at "Dr. Manuel Gea Gonzalez" General Hospital, during a period between October 1st 1987 and September 31st, 1988. A greater incidence among infants below 5 years of age was observed, 16.07% of these were newborn infants. Male infants were the most affected. The most frequent causes were iatrogenic and accidental incidents. Only 4 cases of suicide attempt was reported. Medically prescribed drugs were the most frequent cause of poisoning. Of these, anticholinergic agents were the number one cause. Among other types of agents, a relatively high incidence of mushroom poisoning was observed. General death rate was 10.71%. Through a survey answered by 400 physicians, we studied their knowledge of basic concepts of toxicology, commercial names, doses and side effects of certain drugs; 24% of these were pediatricians, and the rest were general physicians. This survey reveals adequate knowledge of commercial names of drugs, but poor knowledge of basic toxicology, doses and side effects of these drugs.
