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Journal of Neurosurgery. Pediatrics Jun 2024Hydrocephalic macrocephaly can result in poor psychosocial development, positioning difficulties, skin breakdown, and poor cosmesis. Although reduction cranioplasty can...
OBJECTIVE
Hydrocephalic macrocephaly can result in poor psychosocial development, positioning difficulties, skin breakdown, and poor cosmesis. Although reduction cranioplasty can address these sequelae, the postoperative outcomes, complications, and mortality risk of reduction cranioplasty are not well understood given the rarity of hydrocephalic macrocephaly. Therefore, the primary objective of this systematic review was to evaluate the surgical outcomes of reduction cranioplasty for the treatment of hydrocephalic macrocephaly.
METHODS
A systematic review was performed using the PubMed, Scopus, and Web of Science databases while following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Two independent reviewers screened 350 studies; 27 studies reporting surgical outcomes on reduction cranioplasty for hydrocephalic macrocephaly met inclusion criteria. Data on study design, patient demographics, operative details, and surgical outcomes were collected.
RESULTS
There were 65 reduction cranioplasties among the 27 included studies. Eighteen (66.7%) studies presented level V evidence, 7 (25.9%) presented level IV evidence, and 2 (7.4%) presented level III evidence. Following reduction cranioplasty, there was improvement in postoperative head positioning in 23 (85.2%) studies, improvement in postoperative cosmesis in 22 (81.5%) studies, and improvement in global postoperative neurological functioning in 20 (74.1%) studies. The median estimated blood loss was 633 mL (range 20-2600 mL). Shunt revisions were the most common complication, reported in 9 (47.4%) of the 19 studies assessing complications. Of the 65 patients, there was a mortality rate of 6.2% (n = 4).
CONCLUSIONS
The majority of the included studies reported improvement in head size, head positioning, cranial cosmesis, and global neurological functioning following reduction cranioplasty for hydrocephalic macrocephaly. However, the prevalence of lower-level evidence, risk of blood loss, complications, and mortality indicates the need for a serious discussion of surgical indication, an experienced team, and thorough perioperative planning to perform these complex surgeries.
PubMed: 38905711
DOI: 10.3171/2024.4.PEDS23486 -
Child's Nervous System : ChNS :... Jan 2024Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple... (Review)
Review
Autosomal dominantly inherited neurofibromatosis type I (NF1) is a systemic disorder caused by a mutation of a gene on chromosome 17q11.2 and characterized by multiple café-au-lait spots, lentiginous macules, Lisch nodules of the iris, and tumors of the nervous system. Bony manifestations such as scoliosis, dysplasia of the greater sphenoidal wing, tibial pseudoarthrosis, short stature, and macrocephaly have been reported in approximately 50% of patients. However, calvarial bone defects are rare. After screening 324 articles, 23 cases (12 adult and 11 pediatric patients) of occipital bone defects in NF1 patients were selected. All patients had a single/multiple bone defect over the lambdoid suture. Adjacent benign plexiform neurofibromas were observed in 14 patients (60.8%, 7 adults and 7 children); one adult patient was diagnosed with neurofibrosarcoma. Meningoencephalocele over the occipital defect was noted in 8 cases (34.78%, all adults). Cranioplasty was performed in only 17.39% of patients. Histologic examination was performed in 7 of the 15 patients with associated neurofibromas/neurofibrosarcomas. Biopsy of the bone margins surrounding the defect was performed in only one case. Pathologic examination of the herniated parieto-occipital or cerebellar tissue was not performed in any of the patients studied. We report the case of a 9-year-old girl with NF1 and a significant occipital bone defect and performed a systematic review of the relevant literature to highlight the challenges in treating this condition and to investigate the underlying mechanisms contributing to bone defects or dysplasia in NF1.
Topics: Adult; Female; Humans; Child; Neurofibromatosis 1; Cafe-au-Lait Spots; Mutation; Encephalocele; Occipital Bone
PubMed: 37993698
DOI: 10.1007/s00381-023-06232-4