Main diagnosis and cause of death in a neonatal intensive care unit: do clinicians and pathologists agree?

AIM: To determine the agreement rates between clinical and autopsy diagnoses in a neonatal intensive care unit (NICU), distinguishing between the main diagnosis and cause of death. METHODS: Clinical and autopsy records of 75 infants who died in two consecutive years in the NICU (autopsy rate 42.6%) of a pediatric hospital in Mexico City were reviewed. RESULTS: Ninety-two percent of main clinical diagnoses were confirmed by autopsy. Four conditions (congenital cardiopathy, prematurity, specific congenital syndromes and hyaline membrane disease) accounted for more than two-thirds of diagnoses. However, for cause of death, the global agreement was only 50%. The most common conditions considered by clinicians (77%) and pathologists (56%) to be the causes of death were cardiogenic, septic or mixed shocks. Additionally, clinicians omitted 34 relevant conditions in 30 (40.0%) patients, and 21 of these conditions possibly played a role in the deaths of 17 (22.7%) patients. The most frequently omitted diagnosis was pneumonia, in 9 (26.5%) patients. Omissions were not related to gestational age, age at death, days as an inpatient, or gender. CONCLUSION: Despite a high agreement rate in the main diagnoses, notable imprecisions were present regarding cause of death and antemortem overlooking of potentially fatal conditions, confirming the useful role of autopsy to verify clinical diagnoses and suggesting that differentiation between the main diagnosis and cause of death should be carried out in future studies.

[Fever of unknown origin. Presentation of 180 pediatric cases]. / Fiebre de origen obscuro. Presentación de 180 casos pediátricos.

Fever of unknown origin (FUO) is a frequent disorder in pediatric age. FUO is defined as the presence of fever over 38.4 centigrades in a patient for more than three weeks in which the etiology remains undetermined. From 30.736 consecutive admittances into our hospital, 180 patients with FUO were detected, and studied in a systematized way and according to a predetermined protocol. FUO was commonly found in children under six years of age. Our patients presented fever from three weeks to six and a half years of evolution; however, in the vast majority of the cases (n = 115) fever had a three weeks course. Several symptoms and physical manifestations other than fever were observed in our patients but they were widely variable and nonspecific. Infectious diseases were the commonest etiological factor encountered; among them, thyroid fever, and urinary tract infections were the most frequent infectious disorder found; in four children fever was associated to ampicillin administration; in 19 patients, fever was no demonstrated. A large number of laboratory investigations were done in the diagnosis of neoplastic diseases. We think that the study of a patient with FUO requires of a systematized approach.

[The Fanconi-Bickel syndrome]. / Síndrome de Fanconi-Bickel.

This is a case of a 15-month-old child suffering from Fanconi-Bickel syndrome, characterized with Fanconi syndrome manifestations (glycosuria, amino aciduria and phosphaturia), and the build-up of glycogen in the liver in a similar manner as seen in cases of glycogenesis type Ia. Due to the presence of liver glycogenosis, the patient also has a tendency towards hypoglycemia, ketonuria, hypercholesterolemia and hypertriglyceridemia. The glycogenosis seen in the patients with the Fanconi-Bickel syndrome, does not depend on a defect in the activity of the glucose-6-phosphatase enzyme, but in fact is due to a defect in the transporter which mobilizes glucose and galactose in the liver and in the basolateral membrane of the proximal tubule of the kidney.