Celiac disease and glycogenic acanthosis: a new association?

A 6-y-old boy and an 8-y-old girl were admitted to our clinic with anaemia and failure to thrive. Laboratory tests revealed iron deficiency anaemia and positive antigliadin antibodies in both of the patients. Slightly raised grey-white plaques were observed on oesophageal mucosa during endoscopical investigation of the patients. While intestinal mucosal samples confirmed diagnosis of celiac disease histologically, histopathological assessment of oesophageal lesions demonstrated glycogenic acanthosis. Since glycogenic acanthosis associated with celiac disease hasn't been reported in the literature previously to our knowledge, case reports of our patients were presented. CONCLUSION: We suggest that glycogenic acanthosis needs to be investigated as a possible new association of celiac disease in greater paediatric series.     

Mycoplasma pneumoniae: a possible trigger of kawasaki disease or a mere coincidental association? Report of the first four Italian cases

Although epidemiological and clinical features strongly suggest an infectious cause, the etiology of Kawasaki disease (KD) still remains unknown. The hypothesis that bacterial toxins acting as superantigens could trigger the cascade of events leading to KD has been widely debated. We report four children with typical KD in whom a serological evidence of Mycoplasma pneumoniae infection was detected.     

Goldenhar syndrome and neuroblastoma: a chance association?

Oculoauriculovertebral dysplasia, also called Goldenhar syndrome, includes several anomalies: epibulbar dermoids or lipodermoids, microtia, mandibular hypoplasia, vertebral, skeletal, cardiac and kidney anomalies, among others. Tumours have also been observed in patients with oculoauriculovertebral dysplasia. We report the first case of oculoauriculovertebral dysplasia associated with a neuroblastoma. This tumour consists of cells identical to early migratory neural crest cells in the embryo. Several theories have been proposed regarding the pathogenetic explanation of oculoauriculovertebral dysplasia. Currently, some researchers have suggested a deficiency in mesodermal formation or defective interaction between neural crest and mesoderm as a possible aetiology. CONCLUSION: It is suggested that the case reported here is an additional argument for an anomaly in neural crest cell migration or interaction with the mesoderm in the pathogenesis of oculoauriculovertebral dysplasia.     

Complicated gastroschisis and maternal smoking: a causal association?

The incidence of gastroschisis appears to be rising in developed nations, with epidemiological studies indicating association with young maternal age and smoking. Is there an association between maternal smoking and the development of complicated gastroschisis? A retrospective population-based review of all cases of gastroschisis over 11 years was conducted in three Canadian provinces. Complicated cases were defined as those with an associated intestinal atresia or other vascular compromise of the bowel, those requiring a prolonged time to full enteral feeding (>42 days). Univariate and multivariate regression analyses were conducted. Fifty-four cases of gastroschisis were treated. Seventeen patients had complicated gastroschisis (CG). 47.1% of infants were born to smoking mothers; of those 56.25% were in the CG group. On univariate analysis statistically significant associations with complicated cases were young maternal age (<19 years) (OR = 6.0, CI: 1.3, 28.1), low maternal weight gain (<12 kg) (OR = 4.6, CI: 2.5, 8.5), low birth weight (<2,400 g), (OR = 7.7, CI: 2.0, 28.9), and gestational age under 36 weeks (OR = 11.0, CI: 2.6, 46.2). Seven of 24 cases involving maternal smoking developed atresias or vascular intestinal compromise versus 4 of 27 cases with no maternal smoking, with an odds ratio of 2.1 (CI: 0.60, 7.2). On multivariate analysis, atresias and vascular compromise remained significantly associated with young maternal age, low gestational age and low 1-min Apgar score. Although a positive trend is seen, no statistically significant relationship between maternal smoking and the development of complicated gastroschisis was found. Further clinical and epidemiologic studies are needed to validate our findings.     

Growth hormone impaired secretion and antipituitary antibodies in patients with coeliac disease and poor catch-up growth after a long gluten-free diet period: a causal association?

Introduction Coeliac disease (CD) is usually associated with impaired growth in children. A gluten-free diet (GFD) induces a catch-up growth with the recovery of height in about 2 years.Aim and discussion The lack of the height improvement has been related to growth hormone (GH) secretion impairment. CD is an autoimmune disease often associated with other endocrine and non-endocrine autoimmune disease. The aim of this study was to evaluate antipituitary autoantibodies (APA) and antihypothalamus autoantibodies in CD children with poor clinical response to a GFD and growth hormone deficiency (GHD). We diagnosed CD on the basis of specific antibodies and endoscopic biopsies in 130 patients aged 1–15 years. Seven CD children, without catch-up growth after at least 12-months GFD, were tested for GH secretion and, in five out of seven patients, the diagnosis of GHD was made in the absence of metabolic and systemic diseases.Results APA and antihypothalamus antibodies were detected by the indirect immunofluorescence method in the seven CD children without catch-up growth factor and in 25 CD children without growth impairment matched for sex and age, and in 58 healthy children as control groups. APA resulted positive at high titres in four out of five CD-GHD patients and were also positive at low titres (<1:8) in three of only CD children and in two out of 58 controls. Hypothalamic-pituitary magnetic resonance imaging (MRI) was normal in all patients except in one with cystic pineal. APA have been previously detected not only in adults with GHD, but also in idiopathic GHD children, suggesting the occurrence of an autoimmune hypophysitis in these patients.Conclusion In our study, the presence of APA in CD children without catch-up growth after GFD seems to be able to identify an autoimmune form of hypophysitis involving the somatotrophs cells.     

Dominantly inherited isolated hyperparathyroidism: a syndromic association?

Dominantly inherited isolated hyperparathyroidism (DIIH) is rare in childhood. It may be the first biochemical abnormality in the multiple endocrine neoplasia type I (MEN I) and type II (MEN II) syndromes. Its clinical course is usually asymptomatic or of low morbidity. Radiographic examination is most often normal. We describe six members of a family with distinctive phenotype and DIIH. Limited systemic symptoms and severe radiographic osteitis fibrosa cystica were further unusual features in this family. The diagnosis of DIIH was made only after a 9-year-old girl developed hypercalcaemic crisis after a pathological femoral fracture. Distinctive phenotype, unusual clinical course and unparalleled radiographic changes suggest a not yet described syndromic association. Received: 10 March 1998 Accepted: 25 May 1998     

Motor coordination impairment and migraine in children: a new comorbidity?

Migraine without aura (MoA) could be considered the most frequent form of primary headache in children, associated with many known comorbidities, but only the recent literature has begun to consider the importance of motor impairment linked to the attacks. The developmental coordination disorder (DCD) is a very common problem among children, with a prevalence ranging up to 19?%. The aim of this study was to evaluate the presence of motor coordination impairment in a population of children affected by MoA, and its role as putative risk factor for motor skills impairment. This observational study was performed in the Clinic of Child and Adolescent Neuropsychiatry of the Second University of Naples. MoA was diagnosed according to the International Classification of Headache Disorders (IHS-2) criteria. The study population consisted of 27 patients affected by MoA (16 females, 11 males) (mean age: 8.7?±?2.15 years) and 59 typically developing children (34 females, 25 males) (mean age: 8.0?±?2.1 years). The whole population underwent a clinical evaluation in order to assess the total IQ level, the visual motor integration skills, and the presence of DCD. Our results showed that MoA children had more impairments in motor coordination (p?<?0.001) and visual motor integration (p?<?0.001) than control group. To our knowledge, this is the first study to assess the association of poor motor coordination and MoA in children using objective measurements. These findings suggest a new perspective in the management of migraine disease in children, pinpointing that the relationship between DCD and migraine could represent a not yet understood or identified comorbidity, even if further reports are necessary, and that migraine probably could be considered not only a painful syndrome in future.