Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.

INTRODUCTION: Meckel-Gruber Syndrome (MKS) is an autosomal recessive genetic disorder, notable for its triad of occipital encephalocele, polycystic renal dysplasia, and postaxial polydactyly. Identified by Johann Friederich Meckel in 1822, MKS is categorized as a ciliopathy due to gene mutations. Diagnosis is confirmed by the presence of at least two key features. The condition is incompatible with life, leading to death in the womb or shortly after birth. Recent studies have largely focused on the genetic aspects of MKS, with limited information regarding the impact of neurosurgical approaches, particularly in treating encephaloceles. METHODS: A systematic review was performed according to the PRISMA statement. The PubMed, Embase, and Web of Science databases were consulted for data screening and extraction, which was conducted by two independent reviewers. The search strategy aimed to encompass studies documenting cases of MKS with published reports of encephalocele excisions, and the search strings for all databases were: Meckel-Gruber syndrome OR Meckel Gruber syndrome OR Meckel-gruber OR Meckel Gruber. RESULTS: The study included 10 newborns with MKS associated with occipital encephalocele or meningocele, all of whom underwent surgical repair of the occipital sac. The mean gestational age at birth was 36 (± 2) weeks. The mean of birth weight was 3.14 (± 0.85) kilograms. The average head circumference at birth was 33.82 cm (± 2.17). The mean diameter of the encephalocele/meningocele was 5.91 (± 1.02) cm. Other common central nervous system abnormalities included hydrocephalus, Dandy-Walker malformation, and agenesis of the corpus callosum. 40% required shunting for hydrocephalus. Surgery to remove the occipital sac occurred at a median age of 2.5 days (1.5-6.5). The most common post-surgical complication was the need for mechanical ventilation. The most common cause of death was pneumonia and the median age at death was 6.66 (0.03-18) months. CONCLUSION: Our findings suggest that neurosurgical intervention, especially for managing encephaloceles, may offer some improvement in survival, albeit within a context of generally poor prognosis. However, these results should be interpreted with caution.

Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study.

BACKGROUND: Lung resection is a controversial and understudied therapeutic modality in Primary Ciliary Dyskinesia (PCD). We assessed the prevalence of lung resection in PCD across countries and compared disease course in lobectomised and non-lobectomised patients. METHODS: In the international iPCD cohort, we identified lobectomised and non-lobectomised age and sex-matched PCD patients and compared their characteristics, lung function and BMI cross-sectionally and longitudinally. RESULTS: Among 2896 patients in the iPCD cohort, 163 from 20 centers (15 countries) underwent lung resection (5.6%). Among adult patients, prevalence of lung resection was 8.9%, demonstrating wide variation among countries. Compared to the rest of the iPCD cohort, lobectomised patients were more often females, older at diagnosis, and more often had situs solitus. In about half of the cases (45.6%) lung resection was performed before presentation to specialized PCD centers for diagnostic work-up. Compared to controls (n = 197), lobectomised patients had lower FVC z-scores (- 2.41 vs - 1.35, p = 0.0001) and FEV1 z-scores (- 2.79 vs - 1.99, p = 0.003) at their first post-lung resection assessment. After surgery, lung function continued to decline at a faster rate in lobectomised patients compared to controls (FVC z-score slope: - 0.037/year Vs - 0.009/year, p = 0.047 and FEV1 z-score slope: - 0.052/year Vs - 0.033/year, p = 0.235), although difference did not reach statistical significance for FEV1. Within cases, females and patients with multiple lobe resections had lower lung function. CONCLUSIONS: Prevalence of lung resection in PCD varies widely between countries, is often performed before PCD diagnosis and overall is more frequent in patients with delayed diagnosis. After lung resection, compared to controls most lobectomised patients have poorer and continuing decline of lung function despite lung resection. Further studies benefiting from prospective data collection are needed to confirm these findings.

Rhinosinusitis in Pediatric Primary Ciliary Dyskinesia: Impact of Disease.

OBJECTIVES: Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by abnormal respiratory cilia ultrastructure and/or function causing defective mucociliary clearance. We investigated the extent and severity of rhinosinusitis in a large cohort of children with PCD and explored associations among risk factors, including genotype and sinus disease. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary academic children's hospital. SUBJECTS AND METHODS: A review was conducted with a patient registry at the PCD Foundation Center at our institution. Demographic, imaging, clinical, and operative data were reviewed through the institutional electronic health record system. RESULTS: Fifty-four subjects were identified with mean and median age at diagnosis of 5.2 and 4.0 years. The male:female ratio was 35%:65%. Sinus symptoms were present in 46 (85%) subjects, 22 of whom had chronic rhinosinusitis. Nineteen (35%) subjects underwent operative intervention, consisting of endoscopic sinus surgery (ESS; 16 patients) and maxillary lavage (3 patients). Nineteen subjects underwent adenoidectomy for PCD-related indications. Five sinus-related admissions in 3 subjects were noted during the study period, and no complication of rhinosinusitis occurred in the cohort. Genetic test results were available in 27 subjects, in whom 23 (85%) had biallelic mutations in a PCD gene. Demographic factors, Lund-Mackay score, and PCD genotype were not found to be predictors for ESS or hospitalization in our cohort. CONCLUSION: While rhinosinusitis was common in our PCD cohort, most patients did not require ESS. Since complications of rhinosinusitis were uncommon, we recommend judicious surgical management tailored to the patient's symptoms.

Twenty-year Follow-up of the First Bilateral Living-donor Lobar Lung Transplantation in Japan.

Patients with end-stage lung disease can undergo living-donor lobar lung transplantation (LDLLT), with survival rates improving every year. We herein report the 20-year follow-up findings of the first patient who underwent LDLLT in Japan. A 24-year-old woman with primary ciliary dyskinesia became ventilator-dependent after severe respiratory failure and right-sided heart failure following repeated respiratory infections. In 1998, she underwent LDLLT and received her sister's right lower lobe and her mother's left lower lobe. Although the patient required 21 hospitalizations and developed unilateral bronchiolitis obliterans syndrome, she is in good physical condition and lives without restriction at 20 years after undergoing LDLLT.

Acute cranial decompression in Meckel-Gruber syndrome and slit-ventricle syndrome with craniocephalic disproportion.

Slit-ventricle syndrome (SVS) is characterized by headaches associated with subnormal ventricular size in patients with shunt-treated hydrocephalus. It commonly occurs in children who have had shunts placed at an early age and is diagnosed when computed tomography scans are carried out to investigate suspected shunt obstruction with an accompanying rise in intracranial pressure (ICP). Overdrainage of cerebrospinal fluid may additionally result in craniocephalic disproportion, potentially by dampening the normal expansile pulsations of the dura against the skull, which leads to craniostenosis. Management is controversial because many strategies have only short-term benefit, and surgical intervention is understandably often seen as a last resort.We present a case of a child with SVS and craniocephalic disproportion who was treated with urgent cranial expansion due to rising ICP. Intraoperative ICP monitoring demonstrates a rapid and sustained drop in ICP, and the patient made an uneventful return to his premorbid condition. We conclude that cranial vault expansion should be considered as an effective treatment for postshunt craniocephalic disproportion in patients with SVS.

Severe acute graft versus host disease after lung transplant: report of a case successfully treated with high dose corticosteroids.

Acute graft vs host disease is an uncommon and usually fatal complication of lung transplant for which no effective therapy exists. All 8 patients with grade 3 to 4 acute graft vs host disease after lung transplantation described in literature died within 208 days. We report a patient with grade 3 to 4 acute graft vs host disease after bilateral lung transplantation who was successfully treated with high-dose corticosteroids after basiliximab and extracorporeal photopheresis were unsuccessful.

Patency of inferior meatal antrostomy.

OBJECTIVE: To evaluate the patency and effectiveness of inferior meatal antrostomy for the treatment of maxillary lesions. METHODS: Patients suffering from moderate-to-severe chronic sinusitis who underwent inferior meatal antrostomies at St. Marianna University Toyoko Hospital and followed up for at least 1 year after surgery were selected. Thirty sides of 27 patients were analyzed. Postoperative mucociliary function was examined in seven sides of seven patients. RESULTS: No closure was observed in all 30 procedures. Out of 30 antra, 26 (86.7%) had normal antral mucosa. Recurrent mucosal lesions inside the maxillary sinus were successfully treated through the inferior meatal window. No cases showed circular flow on the india ink test. All sinuses exhibited a discharge from the middle meatal window and three out of seven sinuses exhibited a discharge from the inferior meatal window. CONCLUSIONS: Although long-term follow-up is required to determine the patency of inferior meatal antrostomy, initial results are encouraging. The inferior meatal window provides both intra- and postoperative benefits.

Living-donor lobar lung transplantation for primary ciliary dyskinesia.

A ventilator-dependent patient with primary ciliary dyskinesia underwent successful living-donor lobar lung transplantation. The case was a 24-year-old woman who had developed recurrent lower respiratory infection and became ventilator-dependent due to severe bronchiectasis. Transmission electron microscopy of the resected bronchus demonstrated inner dynein arm deficiency.

One year follow-up of the first bilateral living-donor lobar lung transplantation in Japan.

One-year follow-up results on Japan's first bilateral living-donor lobar lung transplantation concern a 24-year-old woman who had become ventilator-dependent due to severe bronchiectasis associated with primary ciliary dyskinesia. Surgery was conducted using her sister's right lower lobe and her mother's left lower lobe. Total forced vital capacity of the 2 transplanted lobes was 51.7% of the recipient's predicted forced vital capacity. One-year after transplantation, her forced vital capacity was 2,160 ml--73.2% of her predicted forced vital capacity. The recipient's sister's decrease in forced vital capacity was 410 ml and that of her mother 440 ml. The recipient and donors have since returned to normal, unrestricted lives.

[Primary ciliary dyskinesia treated with living-donor lobar lung transplantation].

We report a case of primary ciliary dyskinesia in which a living-donor lobar lung transplant was performed. A 24-year-old woman with a diagnosis of primary ciliary dyskinesia and bronchiectasis was admitted to Shinshu University Hospital because of persistent dyspnea and pyrexia over a period of 4 months. Although she was given various antibiotics, neutrophilia, elevated plasma C-reactive protein (CRP) levels, and respiratory failure persisted. Chest roentgenograms and computed tomography disclosed severe bronchiectasis and diffuse infiltrative shadows in both lung fields. Pseudomonas aeruginosa was detected in a sputum culture. Although a variety of conventional therapies were administered, the patient's oxygenation progressively deteriorated. She was intubated and assisted by mechanical ventilation. The patient and her family proposed lung transplantation, and we concluded that a living-donor lobar lung transplant would be a suitable treatment for her disease. We transported the patient to Okayama University Hospital by helicopter 10 days after intubation. A living-donor lobar lung transplant was successfully performed with lung tissues donated by the patient's mother and sister for each transplant site.

[First successful bilateral living-donor lobar lung transplantation in Japan].

No successful lung transplantation has been reported in Japan until recently when we performed the first successful bilateral living-donor lobar lung transplantation. A 24-year-old woman with primary ciliary dyskinesia began experiencing severe respiratory insufficiency and required mechanical ventilation. On October 28, 1998, she underwent bilateral living-donor lobar transplantation, receiving her sister's lower right lobe and her mother's left lower lobe under cardiopulmonary bypass. The patient was discharged from the hospital 61 days after transplantation. Six months postoperatively, she has returned to normal life and is able to carry out daily activities. She is in good physical condition with a vital capacity of 1.77 L.

Results of tympanoplasty in children with primary ciliary dyskinesia.

OBJECTIVE: To assess the results of tympanoplasty in children with primary ciliary dyskinesia complicated by tympanic perforation or cholesteatoma with hearing loss and/or recurrent otorrhea. DESIGN: Retrospective study. Postoperative follow-up of 26.3 months in the type 1 tympanoplasty group and 46 months in the child with cholesteatoma. SETTING: Hospitalized care, referral center. PATIENTS: Seven children with primary ciliary dyskinesia, complicated in 6 children by 9 tympanic perforations (3 bilateral perforations) and in 1 child by an attical cholesteatoma. RESULTS: After 9 type 1 tympanoplasties, the grafts were intact in 9 ears, with no recurrence of otorrhea, but serous otitis media was present in 6 of the 9 ears. Auditory improvement was significant, with an average gain of 17-dB hearing level in speech frequencies. After a canal wall-down tympanoplasty with mastoidectomy for attic cholesteatoma in 1 ear, the cavity that was operated on showed no signs of otorrhea or residual cholesteatoma after a follow-up of 46 months. CONCLUSION: In children with primary ciliary dyskinesia, tympanoplasty has a high probability of graft success and auditory improvement, despite the frequent recurrence of serous otitis media.

[Mucociliary clearance of radically operated maxillary sinuses and effect of endoscopic ethmoid bone revision on the mucociliary system]. / Untersuchungen zur mukoziliären Clearance radikal voroperierter Kieferhöhlen und zum Einfluss der endoskopischen Siebbeinrevision auf deren Mukoziliarapparat.

Twenty-six maxillary sinuses (of 20 patients) were studied following Caldwell-Luc procedures. Surgery had been performed between 1 to 27 years previously. Follow-up studies included nasal endoscopy, coronal computed tomography and camera-sequence scintigraphy. Findings demonstrated that normalization of disturbed mucosal function was possible after surgery. Indications for revision endoscopic sinus surgery are discussed, as are the limitations of surgery.

A treatment for primary ciliary dyskinesia: efficacy of functional endoscopic sinus surgery.

Primary ciliary dyskinesia (PCD) is an inherited disorder manifested in children as chronic otomastoiditis, recurrent pneumonia, and chronic sinusitis. The failure of the ciliary beat pattern to effectively function in the respiratory tract produces stasis of secretions with secondary inflammation, edema, and infection. The authors report three young children with PCD who presented with variable severities of symptoms. Each had the aforementioned respiratory tract problems. The child with the most severe symptomatology was treated with a variety of medical options, including long-term gamma globulin injections, but hospitalizations persisted twice per month because of severe sinopulmonary illness. All three of the children underwent functional endoscopic sinus surgery (FESS). In addition, two children received pressure equalization (PE) tubes. One child required a revision procedure. Their surgical outcomes are discussed. Follow-up of FESS in three children with this disorder shows a marked improvement in symptomatology with a decreased incidence of hospitalization and a somewhat decreased need for medical therapy.

[Clinical and functional aspects of endonasal operation of the maxillary sinuses]. / Klinische und funktionelle Aspekte der endonasalen Kieferhöhlen-Operation.

A total of 118 detailed questionnaires sent out to patients 3-5 years after endoscopic endonasal maxillary sinus surgery were evaluated. Forty-four patients (37.3%) were re-examined endoscopically. The procedure involves no complications, and 87% of the patients judged the endoscopic treatment of chronic maxillary sinusitis to have been successful. Supraturbinal antral windows remained patent, and a higher percentage were functionally intact compared with infraturbinal ones. The mucociliary pathways of the maxillary sinus via the antral window were restored postoperatively.