Sternal cleft and pectus excavatum: an overlooked congenital association?

BACKGROUND: Sternal cleft (SC), a rare thoracic malformation, is associated with pectus excavatum (PE) in 2.6-5% of cases. It remains unclear if these conditions are congenitally linked or if SC repair triggers PE. To investigate the potential higher frequency of PE in SC cases, we conducted a retrospective study of our SC patients. METHODS: We assessed PE incidence, progression, and management in SC patients treated at our institute from 2006 to 2022. When available, we collected pre-SC repair CT scan data, calculating the Haller Index (HI) and Correction Index (CI) and compared them to a selected control group. RESULTS: Among 8 SC patients, 7 had concomitant PE (87.5%), varying in severity. PE management ranged from observation to thoracoplasty, depending on its degree. We observed a significant pre-operative CI difference between SC and control group patients (p < 0.00001). In the last two SC repair cases, we attempted concurrent PE prevention or treatment. CONCLUSION: Our findings suggest an underestimated association between PE and SC in the existing literature. SC patients may exhibit a predisposition to PE from birth, which may become more apparent with growth after SC repair. Consequently, PE prevention or treatment should be considered during SC repair procedures.

Navigating the complexities of encephalocraniocutaneous lipomatosis: a case series and review.

INTRODUCTION: Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with complex skin, eye, and central nervous system (CNS) symptoms. Diagnosis and treatment are challenging due to its rarity and diverse manifestations. It often involves issues like porencephalic cysts, cortical atrophy, and low-grade gliomas in the CNS, resulting in developmental delays. The spinal cord is frequently affected, leading to problems like medullary compression and radiculopathy, causing back pain and sensory/motor deficits. Surgical interventions are reserved for symptomatic cases to address hydrocephalus or alleviate spinal lipomas. This article reviews a case series to assess surgical risks and neurological outcomes. CASE SERIES: We present a case series ECCL, focusing on the diffuse lipomatosis of the spinal cord and the intricate surgical procedures involved. A multi-stage surgical approach was adopted, with continuous neuromonitoring employed to safeguard motor pathways. We discuss clinical characteristics, imaging studies, and indications for neurosurgical interventions. DISCUSSION: ECCL is a complex syndrome. Diagnosis is challenging and includes clinical evaluation, neuroimaging, and genetic testing. Treatment targets specific symptoms, often requiring surgery for issues like lipomas or cerebral cysts. Surgery involves laminectomies, spinal fusion, and motor pathway monitoring. Thorough follow-up is crucial due to potential CNS complications like low-grade gliomas. Hydrocephalus occurs in some cases, with endoscopic third ventriculostomy (ETV) preferred over ventriculoperitoneal shunt placement. CONCLUSION: Neurosurgery for ECCL is for symptomatic cases. ETV is preferred for hydrocephalus, while the treatment for lipoma is based on the presence of symptoms; the follow-up should assess growth and prevent deformities.

A case report of hemorrhagic presentation of diffuse neonatal hemangiomatosis (DNH) associated to obstructive hydrocephalus: Medical and neurosurgical considerations.

BACKGROUND: Diffuse neonatal hemangiomatosis (DNH) is a rare disorder typically recognized at birth or during the neonatal period. DNH involves three or more organ systems, including the central nervous system (CNS). In these cases, serious complications such as hemorrhages and obstructive hydrocephalus can develop. CASE REPORT: We present a case of DNH with intracranial hypertension and CNS hemorrhagic lesions on the mesencephalic aqueduct, resulting in triventricular hydrocephalus, treated with endoscopic ventriculocisternostomy (ETV) and medical therapy. DISCUSSION: DNH is a rare condition that can involve the CNS with serious complications. From a review of the literature, we highlighted only two cases of DNH with brain involvement treated surgically. We report the successful outcome of ETV, along with surgical considerations, imaging findings, and the complete resolution of cerebral and skin lesions following medical therapy. CONCLUSIONS: Medical therapy is not standardized and must be individualized. In patients who develop severe neurological symptoms such as obstructive hydrocephalus, surgery may be considered to avoid neurological sequelae.

Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details.

INTRODUCTION: Jeune's syndrome, or asphyxiating thoracic dystrophy (ATD), is a rare autosomal recessive disorder characterized by skeletal dysplasia. Ribs are typically short and horizontal resulting-in lethal variant-in severe lung hypoplasia, progressive respiratory failure, and death. Lateral thoracic expansion (LTE) consists in staggered bilateral ribs osteotomy leading to chest expansion and lung development. Studies on LTE in ATD patients report encouraging data, but the rarity of ATD implies the lack of a standardized surgical path. The aim of this report is to present our experience with LTE, the technical modification we adopted, and patients' clinical outcome. MATERIALS AND METHODS: We retrospectively reviewed data of 11 LTE performed in 7 ATD patients with lethal variant. Information regarding pre- and postoperative clinical conditions and surgical details was collected. We adopted a single-stage or a two-stage approach based on patient clinical condition. Computed tomography (CT) scan was performed before and after surgery and lung volume was calculated. RESULTS: Five patients are alive, while two died in intensive care unit for other than respiratory cause (sepsis). Most patients experienced clinical improvement in terms of decreased respiratory infections rate, need for ventilation, and improved exercise tolerance. Postoperative CT scan demonstrated a median lung volume increase of 88%. CONCLUSION: Mortality in ADT patients is high. However, LTE is a feasible and safe surgical approach, which could improve clinical conditions and survival rate. Survived patients showed postoperatively less oxygen requirement and improved clinical conditions.

Prolonged antibiotic administration for surgical site infection in pediatric laryngotracheal surgery.

OBJECTIVES/HYPOTHESIS: Incidence of surgical site infection (SSI) after laryngotracheal (LT) surgery is relatively high, especially in children. STUDY DESIGN: Retrospective and prospective cohort study. METHODS: Clinical records of children who underwent open LT surgery at the Istituto Giannina Gaslini Children's Hospital from January 2008 to August 2017 were reviewed for development of SSI. Standard antibiotic prophylaxis was administered until February 2015. In March 2015, an antibiotic treatment tailored on pathogens isolated from surveillance cultures and prolonged until extubation was introduced. Incidence and risk factors for SSI before and after the new protocol implementation were analyzed by means of univariate and multivariable analyses. RESULTS: A total of 57 procedures were analyzed. SSI incidence was 36% in patients receiving standard prophylaxis and 4% in those treated with the new strategy (P = .004), with an absolute benefit increase of 32% (95% confidence interval: 11%-52%), in absence of any difference in clinical conditions between the two groups. CONCLUSIONS: The new management protocol had a highly favorable impact on the development of an SSI. LEVEL OF EVIDENCE: 2b Laryngoscope, 129:2634-2639, 2019.