"Face(s)" of a PHACE(S) Syndrome Patient before and after Therapy: Particular Case Report and Review of Literature.

A rare, uncommon disorder called PHACE(S) (P-posterior fossa anomalies, H-hemangioma, A-arterial anomalies, C-cardiac anomalies, E-eye anomalies, and S-sternal cleft) of unknown etiology was rarely reported. Children are susceptible to developing PHACE(S) syndrome from the moment they are born. It may be challenging for a physician to appropriately diagnose and treat children with PHACE due to the multifaceted nature of the disease and the extensive range of consequences that may be associated with it. A one-month-old newborn girl was admitted to hospital with extensive, multiple facial infantile hemangiomas, ulceration of the lower lip hemangioma-like lesion, cardiovascular, sternal, and neurological concomitant malformations. Five days following the initial application of the medication, systemic treatment with propranolol and topical treatment with silver sulfadiazine produced their first noticeable benefits. The lip ulceration was mostly healed and facial hemangioma started to regress. The regression continued under therapy and this effect persists for 6 months since Propranolol therapy ended. No cardiovascular or neurological clinical events have been registered during follow-up. The present case has three peculiarities: (1) high number of facial hemangiomas; (2) presence of subependymal cyst not yet reported in the literature associated with PHACE syndrome; and (3) lack of cardiovascular events during therapy knowing that these events frequently appear in PHACE syndrome patients.

Macronutrients Management for Growth in Neonates with Congenital Gastrointestinal Malformation.

BACKGROUND Congenital gastrointestinal (GI) malformations are developmental disorders that can result in secondary intestinal failure. Nutrient intakes must be adapted according to the newborn's nutritional requirements based on frequent anthropometric and biochemical assessments. Deficiencies or excess of a macronutrient can hinder the growth of the newborn. MATERIAL AND METHODS To assess the clinical condition of newborns with GI malformations, together with the postoperative nutritional status of newborns who underwent surgery due to congenital GI malformations, we performed a case-control study. The study group comprised newborns with digestive malformations (n=51) and the control group consisted of newborns without digestive pathologies (n=102), matched by sex, gestational age, and weight at admission. RESULTS Bivariate comparisons and multiple logistic regression analyses were performed. A P value <0.05 was considered to be statistically significant; these were observed in abdominal distension, gastric residue, and vomiting. The duration of hospitalization was shorter in the case group, as on average, they were transferred to the Pediatric Surgery Department on the 6th day, where they further remained admitted to treat the underlying cause. Differences between groups in administration of breast milk versus formula were not statistically significant. CONCLUSIONS We concluded that the clinical examination had a major role in early detection of digestive malformations and in the effective management of specific necessary nutrition. Proper evaluation of when to start enteral feeding can help post-surgical cases to recover faster, minimizing complications. Further studies are required to assess how financial factors affect implementation of the standardized guidelines of nutrition in children and to find possible solutions to financial constraints.

Costal cartilage overgrowth does not induce pectus-like deformation in the chest wall of a rat model.

Overgrowth of the costal cartilages has been frequently reported to be an etiological factor of chest wall deformities in children. The present study aimed to investigate if induced overgrowth of the costal cartilages could lead to deformation of the chest wall in a rat model. An insulin-like growth factor 1 (IGF1) solution was directly injected under the perichondrium of the last three costal cartilages of 2-week-old rat pups. Two different concentrations, 50 µg/ml (E50) and 100 µg/ml (E100), were applied. This procedure was repeated once per week for 5 consecutive weeks. Subsequently, 14 days after the last injection, all animals were euthanized before the shape of the thoracic cage was assessed, and the diameter was measured. In addition, the last three costal cartilages were dissected before the samples were prepared and examined by light microscopy. Rats that received E100 exhibited larger sagittal and coronal rib cage diameters compared with those in the E50 and control groups. However, no deformation could be observed in the chest wall. Microscopic examinations revealed an anabolic pattern in the E100 group. The present findings suggested that locally administered IGF1 stimulated cell proliferation and tissue growth in coastal cartilages in a dose-dependent manner in vivo. However, this induced overgrowth of the costal cartilages did not result in the deformation of the chest wall.

Expression of ß1 adrenergic receptor in vascular anomalies in children.

OBJECTIVE: Controversial, heterogeneous, and inconsistent responses to beta-blockers have been reported in some cases of infantile proliferative hemangiomas. On the basis of these clinical observations, we aimed to examine the ß1 adrenergic receptor (ß1-AR) protein expression distribution among different types of pediatric vascular anomalies. METHODS: Immunohistochemistry (IHC) was performed for ß1-AR on 43 surgical specimens. RESULTS: We found positive ß1-AR IHC staining in all intramuscular hemangiomas, capillary-lymphatic, lymphatic, venous, and combined malformations, and Masson's tumor cases, as well as in 7 of 10 cases of proliferative infantile hemangiomas. CONCLUSIONS: Our research demonstrates, for the first time, the degree of heterogeneous expression of ß1-AR among pediatric vascular malformations. Our results support the need for ß1-AR assessment in pediatric vascular anomalies to select cases with a robust response to ß1-selective blockers. ß1-AR assessment may have a strong impact on therapeutic refinement for pediatric vascular anomalies by selecting cases with a stronger response to beta-blockers.

Costal Cartilages Do Not Overgrow in Patients with Pectus Excavatum.

OBJECTIVE: The purpose of this study was to determine whether or not patients with pectus excavatum (PE) exhibit costal cartilage overgrowth compared to normal subjects. MATERIALS AND METHODS: The computed tomography acquisitions of 32 patients with PE and 35 normal controls were analyzed. On axial images the length of the 4th-7th costal cartilages was measured to calculate the Haller index. The ratio between the length of the cartilages and the median of the transverse and longitudinal thorax diameters were recorded to account for anatomical variability. The length of the cartilages was compared between the PE and control subjects using the independent-samples t test. For patients with asymmetric PE the length of the 4th-7th costal cartilages was compared between the rotated and nonrotated sides. RESULTS: The mean transverse and coronal thorax diameters were 233.29 ± 24.47 and 231.69 ± 22.47 mm for PE patients and 252.67 ± 37.25 and 238.64 ± 27.40 mm for controls, respectively, with no significant differences between the two groups (p = 0.816 and 0.145). The mean sagittal diameter (59.30 ± 14.21 mm) and Haller index (4.02 ± 1.34) in the PE group were significantly different from the controls (107.34 ± 19.59 and 2.2 ± 0.54 mm, respectively; p = 0.00). Actual and relative lengths of costal cartilages were similar in both PE subjects and controls for all 4 costal cartilages measured. In subjects with asymmetric PE, both relative and absolute costal cartilage lengths were similar on the rotated and nonrotated side. CONCLUSIONS: The length of the 4th, 5th, 6th and 7th costal cartilages was similar in PE patients and the control subjects. These was also similar between the rotated and nonrotated sides of the sternum in patients with asymmetric PE.

Gruber-Frantz tumor: a very rare pathological condition in children.

Solid pseudopapillary tumor of the pancreas or Gruber-Frantz tumor is a rare pathological entity. Its incidence is even lower in children. This neoplasm has low malignant potential and with adequate surgical treatment has a very good prognosis. We present the case of a 15-year-old girl admitted in our department for an intra-abdominal tumor, diagnosed incidentally on ultrasonography after a minor trauma. The CT scan revealed an important mass, apparently localized in the liver. Intraoperative assessment found the tumor originating from the pancreatic head (12 cm in diameter), well defined, with reddish-brown color, well-vascularized and heterogeneous consistency. It was completely removed without sacrificing other tissues. The postoperative evolution was uneventful. The microscopic feature of the tumor, using Hematoxylin and Eosin staining was characteristic. Immunohistochemistry confirmed the diagnosis. Four years postoperative follow-up showed no recurrence. Only several hundred solid pseudopapillary tumors of the pancreas are described in the literature. In children, the incidence of this tumor is extremely rare. Some investigators believe it is originated from pluripotent primordial stem cells. The clinical picture is non-specific. Despite its rarity, this type of tumor should be taken into account in the differential diagnosis of abdominal masses in children, especially in girls. The diagnosis is made only histologically. Complete surgical excision is curative.

Laparoendoscopically assisted endoscopic small bowel polypectomy in a patient with Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome is a rare condition, requiring regular endoscopic or radiological diagnostic studies. Polyps are a potential source of dysplasia and malignancy. We present a case in which we used a new diagnostic and therapeutic approach to this pathology by performing a laparoscopically assisted endoscopic polypectomy. This approach is minimally invasive and can be repeated if necessary. It might also be adopted for diagnosis and treatment of other intestinal pathologies, such as vascular malformations in the small bowel.