Differential Diagnosis Of Infants Research Articles

Generalized Arterial Calcification of Infancy Associated with Meconium Peritonitis: A Case Report and Review of the Literature

Generalized arterial calcification of infancy (GACI) is a rare genetic disorder consisting of diffuse arterial calcification and intimal proliferation. The disease typically results in progressive arterial stenosis and frequently leads to death from myocardial ischemia by 6 months of life. Affected infants are usually diagnosed before birth or in the neonatal period with symptoms of congestive heart failure. Therapy with bisphosphonate has been used to treat the condition, but with inconsistent results. The disease is associated with mutations in ENPP1 in the majority of the cases. Here we report a unique case of GACI associated with in utero meconium peritonitis and without coding region mutations of the ENPP1 gene. GACI should be considered in the differential diagnosis in infants presenting with arterial calcifications and congenital anomalies of the gastrointestinal tract.

Intractable Seizures, Developmental Delay, and the Ketogenic Diet

Glucose transporter type 1 (GLUT1) deficiency syndrome is a rare, treatable cause of developmental delay and seizures. It must be considered in the differential diagnosis of infants with intractable seizures. The finding of a low glucose level in the cerebrospinal fluid with normal level in the blood in the absence of pleocytosis or other cerebrospinal fluid abnormalities identifies the condition. Genetic analysis for confirmation is available. Treatment with antiepileptic medications often is unsuccessful, and the ketogenic diet is the favored treatment for seizure control. Early identification and initiation of treatment may prevent or lessen the severity of developmental delay.

Estudio clínico-epidemiológico de la infección por Bordetella pertussis en la isla de Gran Canaria en el período 2003-2007

To describe the epidemiological and clinical pattern of a Bordetella pertussis infection (whooping cough) among hospitalised infants in a paediatric hospital in Gran Canaria island (Spain). A retrospective review of the patient hospital records was performed considering only those with a microbiological diagnosis of pertussis by polymerase chain reaction (PCR) for the period September 2003-September 2007. Forty nine patients were identified, of which 47 were < 6 months of age. The annual incidence of hospitalisation was estimated between 103.9 and 204.5 cases per 100,000 infants < 12 months old. Household members were the potential source of infection in at least 65.3 % of the cases. Clinical data were obtained from 47 patients. Complications occurred in 23.4 % of the patients (11 infants), three of them died (6.4 %). Viral coinfections occurred in 33.3 % of the infants diagnosed with pertussis. Pertussis presents a high complication rate among infants < 6 months old. Pertussis must be considered in the differential diagnosis of infants < 6 months old who present with severe pneumonia. Immunization strategies in the adult population must be reviewed and updated in order to attain higher protection of the more vulnerable paediatric population.

Incarcerated femoral hernia with ovary and fallopian tube torsion in an infant: a rare occurrence

Incarcerated femoral hernia with ovary and fallopian tube torsion is very rare in children. We herein report a case of incarcerated femoral hernia with ovary and fallopian tube torsion in a 7-month-old female who was diagnosed on the basis of operative findings. We released the torsion of the left fallopian tube. However, the ovary remained discolored. Left salpingo-oophorectomy and McVay repair for femoral hernia were performed. She has experienced no recurrence of femoral hernia for 3 years. We must consider incarcerated femoral hernia in the differential diagnosis for infants with groin redness and swelling.

Allergic proctitis and abdominal distention mimicking Hirschsprung's disease in infants

To determine the incidence and clinical aspects of allergic proctitis (AP) in infants with symptoms that mimic Hirschsprung's disease (HD). One hundred and five patients less than 6 months of age, who underwent barium enema, anorectal manometry and rectal suction biopsy due to suspicion of HD, were enrolled. Comparison of the patient characteristics associated with each disease was based on the results of the triple testing. The sensitivity and specificity of the three tests, for the diagnosis of HD, were evaluated. The mean age of enrolled patients was 2.1+/-0.9 months. Based on the three tests, 39 patients (37.1%) were diagnosed with HD, seven patients (6.7%) with AP, and 53 (50.5%) had normal results. Of the 54 patients with transitional zone and a reversed rectosigmoid index on the barium enema, four (7.4%) were patients with AP. The mean age of the AP patients (3.1+/-1.5 months old) was older than the HD children (1.4+/-0.9 months old). The sensitivity of the three tests for HD was 97.4%, 87.2% and 92.3% and the specificity was: 74.2%, 78.8% and 100%, respectively. In the infants with severe abdominal distention, the incidence of AP mimicking HD was relatively high. Therefore, consideration of AP should be part of the differential diagnosis in infants with severe abdominal distention or findings that mimic HD. For differentiation of these disorders, a rectal suction biopsy is very useful.

Acute and chronic gastric volvulus in infants and children: who should be treated surgically?

Gastric volvulus was first described by Berti in 1966. Whereas acute gastric volvulus is very rare, chronic gastric volvulus on the other hand is being diagnosed with increasing frequency. This is attributed to the liberal use of barium meal for the evaluation of infants and children with repeated attacks of vomiting and recurrent chest infection. This report describes our experience in the management of 36 infants and children with acute and chronic gastric volvulus. Their medical records were retrospectively reviewed for: age at diagnosis, sex, symptomatology, diagnosis, treatment and outcome. There were 22 males and 14 females. Their ages at presentation ranged from 1 week to 2.5 years (mean 6.7 months). Their symptomatology included repeated attacks of vomiting (30 patients), recurrent chest infection and asthma like symptoms (6 patients), failure to thrive (6 patients), chocking with feeds (3 patients), loose bowel motion (3 patients) and apnoea attack (1 patient). Two presented acutely with intrathoracic gastric volvulus. One of them had recurrent left diaphragmatic hernia while the other had a large paraesophageal hernia. The remaining patients had chronic intraabdominal gastric volvulus. Radiologically, all had organo-axial gastric volvulus except one who had mesenterico-axial gastric volvulus and 33 (97%) of them had demonstrable gastroesophageal reflux. Eleven were treated conservatively because their symptoms were mild to moderate and settled. The two patients with intrathoracic gastric volvulus underwent reduction of the contents, repair of the defect and anterior gastropexy. The remaining patients underwent gastropexy, both fundal and anterior. Intraoperatively, two were found to have diaphragmatic hernia, nine had mobile (non-fixed) spleen, and eight showed mobile stomach with lax ligaments. Post-operatively, all did well and showed good improvement with disappearance of their symptoms and increase in weight. Acute gastric volvulus is very rare. Prompt clinical suspicion and radiological assessment are essential to treat this life-threatening condition. Chronic gastric volvulus on the other hand is more common but under diagnosed. It should be included in the differential diagnosis of infants and children with repeated attacks of chest infection, vomiting and failure to thrive. Barium meal should form part of their investigations. The treatment of chronic gastric volvulus depends on their symptomatology. Those with mild to moderate symptoms should be treated conservatively, while those with persistent and severe symptoms should undergo anterior (to the abdominal wall) and fundal (to the diaphragm) gastropexy without fundoplication.

Rare Presentation of Fungal Orbital Cellulitis in an Immunocompetent Infant

A 3-month-old infant presented with unilateral proptosis. Ophthalmic and physical examinations, computed tomography, and histopathologic examination of a biopsy specimen were performed. Histopathologic examination confirmed fungal orbital cellulitis. The patient responded to 6 weeks of antifungal therapy. Fungal orbital cellulitis should be included in the differential diagnosis for infants with proptosis.

An unusual tumor of the neck and mediastinum: lipoblastomatosis resulting in paraparesis

Lipoblastomatous tumors are quite rare neoplasms deriving from embryonic white fatty tissues, most often seen in infancy and childhood. Lipoblastoma is the focal and well-circumscribed type, whereas lipoblastomatosis is the more infiltrating type of lipoblastomatous tumors. We present a 14-month-old male infant presenting with a mediastinal mass showing paraparesis, who had previously undergone the removal of the cervical part of this mediastinal mass. We removed the mediastinal part of the mass with a posterolateral thoracotomy which proved to be a lipoblastomatosis. We emphasize that this very uncommon tumor located at the neck and mediastinum should be included in the differential diagnosis of infants having gait disturbance.

Congenital localized scleroderma

Juvenile localized scleroderma (JLS) usually has its onset during later childhood. This report describes the clinical and serologic features of six children with congenital localized scleroderma (CLS). A large, multinational study was conducted among pediatric rheumatology and dermatology centers by collecting information on demographics, family history, triggering environmental factors, clinical features, laboratory reports, and treatment of patients with JLS. Patients with onset at birth were carefully examined. Among 750 patients with JLS, 6 patients (0.8%) had scleroderma-related lesions at birth. Female-to-male ratio was 2:1. All patients had linear scleroderma, in four involving the face with en coup de sabre appearance. Two patients were misdiagnosed as having skin infection, one nevus, one salmon patch, and two undefined skin lesions. The mean diagnostic delay was 3.9 years. In comparison with the group of 733 patients with late-onset JLS, CLS presented a significantly more prolonged disease duration at diagnosis and a higher frequency of en coup de sabre subtypes. Congenital localized scleroderma is a rare and probably underestimated condition in neonates. The linear subtype was the exclusive manifestation of the disease. CLS should be included in the differential diagnosis of infants with cutaneous erythematous fibrotic lesions to avoid functional and aesthetic sequelae and to allow prompt therapy.

Tumors and Tumor-like Conditions of the Spine in Children

Tumors and tumor-like conditions of the spine, although rare, should be included in the differential diagnosis of infants and children with back pain. Skeletal pathology is more frequently the cause of back pain in children than in adults. Although most tumors and tumor-like conditions of the spine in children are benign, many require surgery. Children with malignant tumors of the spine (with the exception of leukemia and lymphoma) may require multimodality therapy, including surgery, to achieve long-term cure. Advances in imaging, surgical technique, surgical technology, and adjuvant therapy have led to improvements in diagnosis and treatment and, thus, outcomes. In many cases, however, early and accurate diagnosis is often possible based on only clinical history, physical examination, and plain radiographic imaging.

Reflux esophagitis: sequelae and differential diagnosis in infants and children including eosinophilic esophagitis.

Gastroesophageal reflux disease (GERD) is a common condition in infants and children and has many clinical mimics. Most pediatric pathology departments process many mucosal biopsies from the proximal gastrointestinal tract to evaluate the presence or absence of reflux esophagitis. Since this subject was last reviewed in the 1997 edition of Perspectives in Pediatric Pathology devoted to gastrointestinal diseases in children (Dahms BB. Reflux esophagitis and sequelae in infants and children. In: Dahms BB, Qualman SJ, eds. Gastrointestinal Disease. Perspectives in Pediatric Pathology, vol. 20. Basel: Karger, 1997;14-34), progress in the field has allowed recognition of additional presenting symptoms and treatments of GERD. Histologic criteria for diagnosing reflux esophagitis have not changed. However, the entity of eosinophilic esophagitis has emerged since 1997 and has been defined well enough to allow it to be distinguished from reflux esophagitis, with which it was probably previously confused. Refinements (though not simplification!) in the definition of Barrett esophagus are still in evolution. This review will summarize these newer concepts and briefly review the standards of diagnosis of reflux esophagitis.

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study

We describe clinical and muscle magnetic resonance imaging (MRI) findings in 11 cases (three familial and eight sporadic) with the form of spinal muscular atrophy characterised by predominant involvement of the lower limbs with weakness of the proximal and distal muscles and marked atrophy of the distal leg and foot muscles. All patients presented at birth with talipes, which were in extension in seven of the 11. Arm muscle and function were preserved and lower limbs appeared to be disproportionately shorter compared to trunk and upper limbs. Functional abilities were markedly affected and only one of the 11 is able to walk independently for long distances, while six require support of crutches and two use callipers for walking. One child lost ambulation following a fall. The course of the disease is relatively stable and the progression of disability appeared to be related mostly to increased contractures rather than to loss of muscle strength. Respiratory and cardiac function were well preserved. A neurogenic disorder was suggested by electromyography and/or muscle biopsy in all patients, while motor nerve conduction was consistently normal. Muscle MRI of the thighs revealed diffuse atrophic appearance with relative hypertrophy of the adductor longus and of the semitendinosus. Genetic studies excluded the involvement of the survival motor neuron gene but none of these families was sufficiently informative to study linkage to the locus on chromosome 12q23-q24 previously found to be involved in patients with similar phenotype. In our experience this form of spinal muscular atrophy affecting predominantly the lower limbs is a relatively common form and should be considered in the differential diagnosis of infants with talipes and weakness in the lower limbs. The identical clinical and imaging features of the sporadic and familial cases suggest that these cases are likely to be affected by the same condition.

Group B streptococcal retropharyngeal cellulitis in a young infant: a case report and review of the literature

The diagnosis of retropharyngeal cellulitis and abscess, although most common in children under 6 years of age, is often misdiagnosed in the newborn or early infancy period. The clinical signs of drooling, neck swelling, dysphagia, and torticollis may be absent or not easily identifiable. The following case report details a 2 1 2 -month-old infant who presented with fever and irritability, and was subsequently diagnosed with group B streptococcal retropharyngeal cellulitis. Retropharyngeal cellulitis and abscess should be considered in the differential diagnosis of infants and young children who present with fever and irritability, particularly when lumbar puncture results are normal. This case also serves to highlight a rare manifestation of late-onset group B steptococcal disease.

Omenn's syndrome: differential diagnosis in infants with erythroderma and immunodeficiency.

The clinical differential diagnosis of erythroderma plus immunodeficiency and failure to thrive in neonates includes graft-versus-host-disease (GVHD), Omenn's syndrome (OS), and Netherton's syndrome (NS). In addition to immunological investigations, skin biopsy is an important part of the diagnostic work-up. We reviewed biopsies from 25 patients that were retrieved from the archives of the Department of Histopathology at Great Ormond Street, of which 9 were OS, 11 were GVHD, and 5 were NS. Five patients had two biopsy specimens. Both OS and GVHD show dyskeratosis and basal vacuolation. OS always shows acanthosis and almost always parakeratosis. GVHD shows a flat epidermis and rarely parakeratosis. OS and GVHD can be distinguished after immunohistochemistry for LCA and CD68 by the relative proportions of lymphocytes and macrophages in the dermal infiltrate (predominantly lymphocytes in OS, relatively more macrophages in GVHD). Skin biopsy diagnosis of OS is difficult before 6 weeks of age because the features are poorly developed. NS can be distinguished by psoriasiform acanthosis, thickening of the basement membrane, prominent dermal blood vessels, absence of dyskeratosis, and basal layer vacuolation, and a dermal infiltrate in which lymphocytes and macrophages are equally represented. Thus, the main difference between GVHD and OS is in the proportion of lymphocytes and macrophages in the infiltrate on immunohistochemical staining for LCA and CD68, while OS and NS may be distinguished on H&E morphology alone.

Cow's-milk-induced allergic colitis in an exclusively breast-fed infant: diagnosed with ultrasound.

An exclusively breast-fed-8-week-old boy presented with irritability and non-bilious projectile vomiting. He was referred to our Medical Imaging Department to eliminate pyloric stenosis. A diagnosis of colitis was strongly suggested by ultrasound. A more detailed history revealed that the patient also had episodes of colicky pain and bloody stools. An infectious colitis was subsequently excluded and rectal biopsy supported the diagnosis of allergic proctocolitis. The infant responded well to the withdrawal of cow's milk and dairy products from the maternal diet. Allergic proctocolitis should be included in the differential diagnosis of infants presenting with vomiting and/or bloody stools.

Lipoid Pneumonia in Children:: Clinical and Imagenological Manifestations

Background Oil-aspiration pneumonia is still a health problem in countries where infants are forced to receive vegetable or animal oil due to traditional habits. The aim of this paper is to present clinical and imagenological characteristics of lipoid pneumonia (LP) in children and a review of the literature. Distinguishing features of and differences between other series are presented. Methods Series of cases. We retrospectively analyzed all records of children with lipoid pneumonia between 1991 and 1996. Results We found 16 patients aged 1–19 months old with positive oil ingestion in 75% and history of recurrent or persistent pneumonia in 81.2%. In almost 70% of patients, there were underlying conditions known as risk factors of aspiration. Plain films and computed tomography (CT) showed that the right lung was always involved. Fat density was found in only two cases. Bronchoscopy with bronchial lavage was performed in 15 patients, with lipophages positive in each patient. Conclusions Lipoid pneumonia must be ruled out in the differential diagnosis in infants with persistent or recurrent pneumonia with or without fever, especially in patients with aspiration risk factors. Bronchoscopy with bronchial lavage and positive lipid-laden alveolar macrophages proved a useful method for diagnosis of this condition. More studies are needed to ascertain the clinical and imagenological evolution of this condition.

Progressive familial intrahepatic cholestasis among the Arab population in Israel.

Progressive familial intrahepatic cholestasis, which constitutes a heterogeneous group of imperfectly delineated syndromes and appears to be inherited as an autosomal recessive condition, has not been hitherto reported from the Middle East, in spite of the high rate of consanguineous marriage in this region. Sixteen affected children from six Israeli Arab families were evaluated over 30 years. All were born to consanguineous parents. Jaundice appeared during the first 3 weeks of life in 15 babies. When first referred, 10 had hepatomegaly and nine had splenomegaly. A progression toward cirrhosis was the rule. Serum levels of conjugated bilirubin, liver enzymes, and alkaline phosphatase were raised; gamma-glutamyl transpeptidase levels were normal in all three infants in whom it was examined, but elevated in two siblings of another family at ages 2 and 3 years. No abnormal bile acids were detected in the serum and urine of patients. Histologic examination of the liver showed giant-cell transformation, paucity of intrahepatic bile ducts, cholestasis, fibrosis, or cirrhosis. The pattern of liver pathology differed at times among affected members within the same family. Therapeutic trials with phenobarbital, cholestyramine, or ursodeoxycholic acid were ineffective. Survival of the patients was from 5 to 18 months in four families; in the other two families, three children received liver transplants, and one is awaiting liver transplantation. Progressive familial intrahepatic cholestasis should be included in the differential diagnosis of infants with cholestatic jaundice of unknown etiology, especially those born to consanguineous Arab parents.

Congenital nasal pyriform aperture (bony inlet) stenosis

Congenital nasal pyriform aperture stenosis should be considered in the differential diagnosis of infants with nasal airway obstruction. It can occur as an isolated anomaly or it can be associated with other congenital anomalies. A history of cyclical respiratory distress and cyanosis often associated with feeding and relieved by crying is characteristic. On examination, the nasal airway is narrowed anteriorly. CT is the study of choice to make the diagnosis and rule out other causes of nasal obstruction. Conservative management is recommended, sometimes with the use of a McGovern nipple for feeding. Severe cases or those in which conservative management fails should be considered for surgery.

Maternal Cocaine Abuse and Fetal Anomalies: Evidence for Teratogenic Effects of Cocaine

We have reported the case of an infant exposed prenatally to cocaine who had congenital anomalies, adding to the growing evidence suggesting cocaine's potential for teratogenicity. The infant, born at 36 weeks' gestation, had bilateral asymmetric upper limb amputation defects. The mother had moderate to severe uterine bleeding during the second trimester of pregnancy after she used intravenous cocaine. We hypothesize that the infant's anomalies are due to cocaine embryopathy, which resulted in amnion rupture or vascular disruption. We believe that cocaine embryopathy should be considered in the differential diagnosis of infants with congenital anomalies such as limb amputation defects.

Bronchogenic Cyst with Tracheal Involvement

Bronchogenic cysts are uncommon developmental anomalies of the primitive foregut that can produce symptoms of ventilatory compromise in infants and children. A 2-month-old child presented with episodes of stridor and obstructive apnea due to a bronchogenic cyst compressing the trachea and causing near-total obstruction. Aspiration of the cyst during bronchoscopy resulted in severe bradycardia (from 140 to 50 beats per minute), although blood pressure was stable and oxygen saturation remained at 100%. Subsequent elective thoracotomy revealed the cyst to be intimately associated with the vagus nerve, and vagal stimulation may have caused the bradycardia. Bronchogenic cysts, although rare, should be considered in the differential diagnosis of infants and children undergoing direct laryngoscopy and bronchoscopy for airway compromise. The endoscopic aspiration of cystic tracheal and bronchial lesions may not obviate the need for more definitive surgical treatment and, as this case demonstrates, is not free of potential hazard.