Infant botulism mimicking an acute abdomen.

Botulism is the acute, flaccid paralysis caused by a neurotoxin produced by Clostridium botulinum. In the infant, clinical symptoms are usually unspecific such as poor feeding, weak suck, feeble cry, drooling, followed by a symmetric, descending, flaccid paralysis beginning with the cranial nerve musculature. The initial symptoms of the disease are often similar to several diseases and therefore differential diagnosis is very difficult and rarely suspected by the physician. Since 2004 only 22 cases of infant botulism have been reported in Italy. Since most paediatricians are unfamiliar with the clinical manifestations of infant botulism, the diagnosis can be easily missed. Hence the disease may well be underestimated and underreported. We report a clinical case of botulism presenting initially with abdominal distention, thereby mimicking acute abdomen.

Lipoblastoma en la infancia / Lipoblastoma in childhood

El lipoblastoma es un tumor infrecuente del tejido embrionario, típico de la infancia y la adolescencia. Tiene un buen pronóstico por su limitada tendencia a infiltrar de forma local y generar metástasis, aunque su crecimiento es rápido y puede alcanzar grandes tamaños. Por este motivo, el tratamiento de elección es la excisión completa. Se presenta el caso de dos pacientes de 7 meses y 7 años, respectivamente, intervenidos quirúrgicamente por lipoblastoma localizado en sitios inusuales: uno, en la pared abdominal, y el otro, en el espacio paravertebral. Se procedió a la extirpación completa de las lesiones. No se observaron signos de malignidad y la evolución inmediata y el seguimiento a medio y largo plazo (3 años y 6 meses, respectivamente) fueron favorables

Lipoblastoma is an uncommon tumor of embryonal fat that occurs typically in infancy and childhood. It has an excellent prognosis,a nd does not behave aggressively or metastasize, but its growth is rapid and it can reach disconcerting proportions. For this reason, the treatment of choice is complete resection. Here we present two patients, 7 months and 7 years old, who underwent surgical excision for lipoblastoma at uncommon sites: abdominal wall and paravertebral space. The patients were normal at follow-up, with no evidence of metastases after 3 years and 6 months, respectively

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.

We report on a new case of a syndrome first described by Cantú et al. [1982: Hum Genet 60:36-41] comprising congenital hypertrichosis, "coarse" facial appearance, and mild osteochondrodysplasia. Our case has some unusual radiological findings, namely proximal and distal megaepiphyses of long bones and advanced bone age.

Increased urinary excretion of collagen crosslinks in type 1 diabetic children in the first 5 years of disease.

To analyze possible early abnormalities in bone resorption in type 1 diabetes mellitus the urinary excretion of the collagen crosslinks pyridinoline and deoxypyridinoline was evaluated by immunoassay in 26 prepubertal diabetic patients (mean age 7.8 +/- 1.6 years, mean duration 3.0 +/- 1.1 years) and 46 healthy children (age 8.3 +/- 1.3 years). Relationships with growth parameters (height-standard deviation score, body mass index and height velocity during the year preceding the study) and metabolic control were sought. Longitudinal and ponderal growth was normal in diabetic children. Urinary collagen crosslink excretion was 88.4 +/- 25 nmol/mmol creatinine (median 86, range 44-146) in diabetic patients and 65.6 +/- 19 nmol/mmol creatinine (median 61, range 32-108) in controls (p = 0. 0002). It was positively influenced by diabetic status (beta = 20.5) and negatively by age (beta = -6.41), controlling by sex and BMI (p = 0.0001). A positive correlation was found between collagen crosslinks and blood glucose (r = 0.48, p = 0.01) or HbA1c levels (r = 0.44, p = 0.02) evaluated at the time of the study, while no significant correlation was found with the mean HbA1c values assessed in the last year or throughout the whole duration of diabetes. Collagen crosslink excretion was significantly increased in patients who presented worsening of their metabolic control in the last 3 months. No relationship was found with the duration of disease or growth parameters. In conclusion, the elevated urinary excretion of collagen crosslinks in diabetic children indicates that bone resorption may be disturbed. Poor metabolic control influences the increased rate of bone resorption and may expose growing diabetic patients to a risk of bone loss.

Pubertal growth, sexual maturation, and final height in children with IDDM. Effects of age at onset and metabolic control.

OBJECTIVE: To evaluate growth and pubertal development in children with IDDM and the influence of the age at onset of IDDM and the degree of metabolic control on final height. RESEARCH DESIGN AND METHODS: We conducted a retrospective evaluation of 62 subjects followed longitudinally both clinically and metabolically from the onset of IDDM until final height was reached. RESULTS: Height at diagnosis was within the normal percentiles in boys (0.5 +/- 1.0 standard deviation score [SDS]) and girls (0.4 +/- 1.0 SDS), but above the genetic target height (-1.0 +/- 0.9 SDS in boys and -1.1 +/- 0.6 SDS in girls; P = 0.0001 for both comparisons). Although a lesser height gain was observed during the ensuing years, the final height reached by boys (-0.4 +/- 1.1 SDS) and girls (-0.4 +/- 0.9 SDS) was higher than the genetic target height. Blunted total pubertal growth was observed both in boys (24.5 +/- 3.6 cm) and girls (20.1 +/- 4.2 cm). The decrease in height gain was independent of the duration of IDDM, the degree of metabolic control, or the insulin requirement. The greater the height at diagnosis, with respect to the genetic target height, the lesser was the subsequent height gain to reach final adult height (r = 0.34, p < 0.01). BMI increased with age as normally occurs in healthy children, independent of the duration of disease and the degree of metabolic control. Pubertal development began and progressed normally both in boys and girls. In boys, a testicular volume of 4 ml was reached at a mean age of 12.1 +/- 0.9 years. In girls, breast enlargement occurred at a mean age of 10.4 +/- 1.2 years and the mean age of menarche was 12.8 +/- 1.4 years. Pubertal development and progression occurred independent of the age at onset of IDDM, the glycemic control, or the insulin requirement during the pubertal period. CONCLUSIONS: Children with IDDM have normal onset of puberty and normal sexual maturation. Even though final height falls within the normal percentiles, the diminished height gain after diagnosis requires further investigation.