Familial neuroendocrine cell hyperplasia of infancy.

BACKGROUND: Neuroendocrine cell hyperplasia of infancy (NEHI) is a recently described children's interstitial lung disease (chILD) disorder of unknown etiology. It manifests clinically with tachypnea, retractions, hypoxemia, and crackles. The characteristic radiographic appearance consists of pulmonary hyperexpansion and ground-glass densities on high-resolution computed tomography (HRCT). Lung histology shows hyperplasia of bombesin-immunopositive neuroendocrine cells within distal bronchioles and alveolar ducts without other identifiable lung pathology or developmental anomaly. METHODS: We describe four families with multiple siblings diagnosed with NEHI. Cases were identified at three pediatric centers. Inclusion criteria included clinical findings consistent with NEHI, lung biopsy confirmation in the index case, and a diagnostic HRCT or biopsy in other siblings. RESULTS: Each family had a proband diagnosed with NEHI based upon pathologic review, and at least one additional sibling diagnosed either by pathologic review or HRCT. All patients presented between 2 and 15 months of age. Both male and female children were affected. The majority of the patients underwent both HRCT and lung biopsy. There were no deaths among affected children. No environmental exposures or other potential etiologies were identified as a cause of presenting symptoms. CONCLUSIONS: The familial occurrence of NEHI suggests the possibility of a genetic etiology for this disorder and highlights the importance of taking a complete family medical history for infants presenting with a suggestive clinical picture. Identification of familial NEHI patients allows for the opportunity to further our understanding of this disorder, its natural history, the phenotypic spectrum, and potential genetic causes.

Analysis of missed cases of abusive head trauma.

CONTEXT: Abusive head trauma (AHT) is a dangerous form of child abuse that can be difficult to diagnose in young children. OBJECTIVES: To determine how frequently AHT was previously missed by physicians in a group of abused children with head injuries and to determine factors associated with the unrecognized diagnosis. DESIGN: Retrospective chart review of cases of head trauma presenting between January 1, 1990, and December 31, 1995. SETTING: Academic children's hospital. PATIENTS: One hundred seventy-three children younger than 3 years with head injuries caused by abuse. MAIN OUTCOME MEASURES: Characteristics of head-injured children in whom diagnosis of AHT was unrecognized and the consequences of the missed diagnoses. RESULTS: Fifty-four (31.2%) of 173 abused children with head injuries had been seen by physicians after AHT and the diagnosis was not recognized. The mean time to correct diagnosis among these children was 7 days (range, 0-189 days). Abusive head trauma was more likely to be unrecognized in very young white children from intact families and in children without respiratory compromise or seizures. In 7 of the children with unrecognized AHT, misinterpretation of radiological studies contributed to the delay in diagnosis. Fifteen children (27.8%) were reinjured after the missed diagnosis. Twenty-two (40.7%) experienced medical complications related to the missed diagnosis. Four of 5 deaths in the group with unrecognized AHT might have been prevented by earlier recognition of abuse. CONCLUSION: Although diagnosing head trauma can be difficult in the absence of a history, it is important to consider inflicted head trauma in infants and young children presenting with nonspecific clinical signs.

Comparison of intracranial computed tomographic (CT) findings in pediatric abusive and accidental head trauma.

BACKGROUND: Child abuse specialists rely heavily on diagnostic neuroimaging. OBJECTIVES: Study objectives were: (1) to compare the frequencies of six specific intracranial CT abnormalities in accidental and non-accidental pediatric head trauma, and (2) to assess interobserver agreement regarding these CT findings. MATERIALS AND METHODS: Three pediatric radiologists blindly and independently reviewed cranial CT scans of pediatric patients who sustained closed head trauma between 1991 and 1994. All patients were less than 4 years of age. Study cases included thirty-nine (50 %) with non-accidental head trauma and thirty-nine (50 %) with accidental head trauma. Each scan was evaluated for the presence or absence of the following six intracranial findings: (1) interhemispheric falx hemorrhage, (2) subdural hemorrhage, (3) large (non-acute) extra-axial fluid, (4) basal ganglia edema, (5) posterior fossa hemorrhage, and (6) frontal-parietal shearing tear(s). Interobserver agreement was calculated as the percentage of total cases in which all reviewers agreed a specific CT finding was present or absent. Diagnosis required independent agreement by all three pediatric radiologists. The frequencies of these six intracranial CT abnormalities were compared between the two study groups by Chi-square analysis and Fisher's exact test. RESULTS: Interobserver agreement between radiologists was greater than 80 % for all lesions evaluated, with the exception of frontal-parietal shearing tear(s). Interhemispheric falx hemorrhage, subdural hemorrhage, large (non-acute) extra-axial fluid, and basal ganglia edema were discovered significantly more frequently in non-accidental trauma (P

Esophageal foreign bodies: safety and efficacy of Foley catheter extraction of coins.

OBJECTIVE: Continued controversy over the role of fluoroscopically guided Foley catheter removal of esophageal foreign bodies has limited the use of this technique despite its significant economic advantages. We reviewed our experience for the safety, efficacy, and applicability of this technique with pediatric patients who had swallowed coins. MATERIALS AND METHODS: We retrospectively reviewed 10 years of experience with pediatric patients who had undergone fluoroscopically guided Foley catheter removal of coins. All the pediatric patients with a suspected esophageal foreign body were first evaluated by plain film radiography. Foley catheter extraction was attempted when a radiopaque coin was seen and the patient lacked signs of significant esophageal edema resulting in tracheal compromise. During the 10 years covered by our review, 14 pediatric radiologists with specific training in the Foley catheter technique were involved in such removals. A separate review (of consecutive pediatric patients who had a history of or symptoms suggesting ingestion of a foreign body) focused on the percentage of these patients in which the Foley catheter technique was used. RESULTS: Of the 337 coin extractions attempted using a Foley catheter, coin extraction was successful in 322 (96%) of 337 patients. No complications were encountered. Our focused review found 422 consecutive patients who had undergone radiography to rule out foreign bodies. A radiopaque object was found in 249 (59%) of 422 patients. Of these 249 objects, 208 (84%) were ingested coins. Of 208 coins, 123 (59%) were retained in the esophagus; of these 123 coins retained in the esophagus, 116 (94%) were amenable to fluoroscopically guided Foley catheter extraction. CONCLUSION: Fluoroscopically guided Foley catheter extraction of retained coins in pediatric patients who lack evidence of significant esophageal edema causing tracheal compromise is a safe and efficacious technique. It should be considered the technique of choice for such extractions.

Internal carotid artery hypoplasia.

Hypoplasia of the carotid arteries is a rare congenital anomaly which when clinically symptomatic presents as cerebral ischemia or hemorrhage. Patients with this anomaly commonly have associated variations of the circle of Willis, an increased incidence of intracranial aneurysms and extensive networks of collateral vessels to accommodate the diminished carotid flow. Carotid artery hypoplasia should not be confused with other conditions which may have a similar appearance such as arterial dissection, vasculitis, and tubular fibromuscular hyperplasia.