Clinical factors associated with need for neurosurgical care in young children with imaging for macrocephaly: a case control study.

BACKGROUND: Macrocephaly is present in 2.3% of children with important neurosurgical conditions in the differential diagnosis. The objective of this study was to identify clinical associations with actionable imaging findings among children with head imaging for macrocephaly. METHODS: We conducted a case-control study of head imaging studies ordered for macrocephaly among children 24 months and younger in a multistate children's health system. Four neurosurgeons reviewed the images, determining cases to be a 'concern' if neurosurgical follow-up or intervention was indicated. Electronic health records were reviewed to collect patient-level data and to determine if surgery was performed. Controls were matched 3:1 to cases of 'concern' in a multivariate model using conditional logistic regression. RESULTS: In the study sample (n = 1293), 46 (4%) were concern cases, with 15 (1%) requiring surgery. Significant clinical factors associated with neurosurgical concern were bulging fontanel [aOR 7.47, (95% CI: 2.28-24.44), P < 0.001], prematurity [aOR 21.26, (95% CI: 3.76-120.21), P < 0.001], any delay [aOR 2.67, (95% CI: 1.13-6.27), P = 0.03], and head-weight Z-score difference (W_diff, defined as the difference between the Z-scores of head circumference and weight) [aOR 1.70, (95% CI: 1.22-2.37), P = 0.002]. CONCLUSIONS: Head imaging for macrocephaly identified few patients with findings of concern and fewer requiring surgery. A greater head-weight Z-score difference appears to represent a novel risk factor for neurosurgical follow-up or intervention.

Cranial vault reduction cranioplasty for severe macrocephaly due to holoprosencephaly and subdural hygroma: a case report.

BACKGROUND: Severe macrocephaly can still be found in developing countries. This condition is usually caused by neglected hydrocephalus and can cause a lot of morbidities. Cranial vault reconstruction cranioplasty is the main treatment option for severe macrocephaly. Holoprosencephaly is often seen with features of microcephaly. Hydrocephalus should be considered as the main cause in HPE patients with features of macrocephaly. In this report, we present a rare case of cranial vault reduction cranioplasty procedure in patient with severe macrocephaly due to holoprosencephaly and subdural hygroma. CASE DESCRIPTION: A 4-year-10-month-old Indonesian boy was admitted with head enlargement since birth. He had a history of VP shunt placement when he was 3 months old. But the condition was neglected. Preoperative head CT showed massive bilateral subdural hygroma that compressed brain parenchyma caudally. From the craniometric calculation, the occipital frontal circumference was 70.5 cm with prominent vertex expansion, the distance between nasion to inion was 11.91 cm and the vertical height was 25.59 cm. The preoperative cranial volume was 24.611 cc. The patient underwent subdural hygroma evacuation and cranial vault reduction cranioplasty. The postoperative cranial volume was 10.468 cc. CONCLUSION: Subdural hygroma can be a rare cause of severe macrocephaly in holoprosencephaly patients. Cranial vault reduction cranioplasty and subdural hygroma evacuation is still the main treatment option. Our procedure successfully reduces significant cranial volume (57.46% volume reduction).

Cochlear implantation in a profoundly deaf child with cystic leukoencephalopathy without megalencephaly.

BACKGROUND: Cochlear implantation candidacy criteria have continued to evolve over the years, and cochlear implantation is possible with many inner-ear and brain anomalies with good hearing and linguistic outcomes. Cystic leukoencephalopathy without megalencephaly is a rare disease in children, with only 30 cases reported in the literature, but it is associated with hearing loss in only three cases. Radiological investigations can help in diagnosing this rare entity before proceeding with cochlear implantation. CASE REPORT: A four-year-old female child born out of consanguinity with normal psychomotor development, bilateral sensorineural hearing loss and an incidental magnetic resonance imaging finding of cystic leukoencephalopathy without megalencephaly underwent successful cochlear implantation. Her post-operative period was uneventful with successful mapping of the cochlear implant. CONCLUSION: This is the first reported case of cystic leukoencephalopathy without megalencephaly and with sensorineural hearing loss in which cochlear implantation was performed successfully. White matter and temporal lobe abnormalities should not deter paediatric cochlear implantation.

[Reduction cranioplasty for hydrocephalic macrocephaly: clinical observations and literature review]. / Reduktsionnaya kranioplastika pri makrotsefalii, vyzvannoi gidrotsefaliei: klinicheskie nablyudeniya i obzor literatury.

Reduction cranioplasty for extreme hydrocephalic macrocephaly is performed for acquiring motor skills (head holding, sitting, moving), aesthetic correction and social adaptation of children. The authors analyze literature data and describe 2 patients with congenital hydrocephalic macrocephaly who underwent shunting surgery followed by reduction cranioplasty in early age using resorbable mini-plates. Reduction cranioplasty decreased skull volume, improved social adaptation of children and ensured favorable aesthetic outcome.

Infantile Macrocephaly: Complicated Familial Benign Enlargement of Subarachnoid Space in Twins of Suspected Nonaccidental Injury.

A 3-month-old first of dizygotic male twins, born at 34 + 5 weeks gestational age, presented with a 4-week history of increasing head circumference and vomiting. He had a tense anterior fontanelle and a head circumference above the 97th percentile. Magnetic resonance imaging showed large bilateral subdural collection with hemosiderin deposits suggestive of hemorrhage. Nine days of bilateral subdural drainage reduced the collection size and blood load. On postoperative day 16, magnetic resonance imaging confirmed persistent but smaller subdural collections, unmasking the underlying subarachnoid space enlargement. On day 18, a right subdural-peritoneal valveless shunt was inserted as definitive treatment. As part of a nonaccidental injury investigation, Twin 2 was also found to have macrocephaly secondary to benign enlargement of subarachnoid space, which was managed conservatively. Benign enlargement of subarachnoid space has an assumed autosomal/multifactorial inheritance and predisposes to subdural hemorrhage. Ultimately, no safeguarding issues were raised. Both twins continued to be neurologically stable at 2-year follow-up with head circumferences between the 98th and 99th percentiles.

Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature.

PURPOSE: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in order to assess the optimal treatment for the associated hydrocephalus. METHODS: We review our institutional series of hydrocephalus associated with MCAP and review the literature, analyzing the causes that could originate the hydrocephalus and the different types of treatments proposed for them. RESULTS: Of our patients treated with ventriculoperitoneal (VP) shunt, one suffered a surgical revision of the shunt and died due to a cranial trauma unrelated to her syndrome or the previous shunt surgery, and the other did not undergo surgical revisions until the end of her follow-up. Our patients treated with endoscopic third ventriculostomy (ETV) have improved their symptomatology and have not suffered of any complications related to the hydrocephalus after the ETV surgery. CONCLUSIONS: We update the treatment of MCAP-associated hydrocephalus and propose ETV as a valid treatment, as it seems a safe procedure with a low rate of complications.

Cranial Vault Remodeling in Children With Ventricular Shunts.

INTRODUCTION: Cranial vault surgery in children with ventricular shunts is more complex due to the possible interference of shunt location with surgical planning and increased risk of shunt related complications. The study evaluated the management of ventricular shunts during cranial vault remodeling (CVR) and subsequent outcomes and complications following CVR. METHODS: An IRB-approved retrospective chart review was performed including patients who underwent CVR in presence of a ventricular shunt. Measured outcomes were number of shunt revisions following CVR, 30-day complication rate, 3-month complication rate, and post-CVR Whitaker classification. Finally, a review of the literature was performed, and our results were compared to previous reports. RESULTS: Eleven patients met the inclusion criteria. Ventricular shunt was not exposed in 18%; exposed and not revised in 54%; exposed and left on a bone peninsula in 18% and simultaneously exposed and revised in 18%. Two patients experienced complications within 30-days. Three additional patients experienced complications within 3-months. An average of 2.2 shunt revisions per patient were performed following CVR. Whitaker classification was I in 7 patients, II in 1 patient and III in 2 patients. Shunt revision rate for patients undergoing CVR for hydrocephalic macrocephaly was on average of 1.2 and 1.9 for shunt-induced craniosynostosis in literature. CONCLUSIONS: Cranial vault abnormalities in the presence of a ventricular shunt can be effectively treated with CVR. The presence of a shunt does not seem to interfere with final head shape. While leaving the shunt unexposed may appear less morbid, shunt related complications can still occur with this approach.

Reverse Distraction for Treatment of Hydrocephalic Macrocephaly in Late Childhood.

Macrocephaly diminishes quality of life for children whose head size inhibits independent mobility and appropriate interaction with caregivers. Cranial reduction is a method of addressing these issues, historically with a high morbidity due most commonly to bleeding and shunt complications. The authors present a 9-year-old girl with holoprosencephaly and severe macrocephaly from progressive hydrocephalus who underwent cranial reduction via reverse distraction osteogenesis, a method to slowly reduce the skull volume. The patient underwent circumferential occipital temporoparietal frontal craniotomy with placement of 4 cranial distractors, followed approximately 1 month later by removal of the distractors and cranioplasty with resorbable fixation devices. The patient demonstrated significant postoperative improvement in head control and interaction in school activities. This is the oldest patient with macrocephaly treated with reverse distraction in the literature to date. The slow contraction of the cranial vault with limited bony surgery at the time of initial reduction provides an additional safety margin, and should be considered in older children presenting with profound macrocephaly.

Early postnatal cranial vault reduction and fixation surgery for severe hydrocephalic macrocephaly.

OBJECTIVE Infants with severe hydrocephalus and extreme macrocephaly typically undergo CSF diversion early in life, which can result in significant cranial deformity due to CSF overdrainage. In this scenario, overlap of the cranial plates can precede the development of secondary synostosis and/or severe, permanent cranial deformity. As a result, extensive cranial vault remodeling is sometimes undertaken later in life, which is often challenging and has been associated with mortality and a high morbidity rate. The authors have previously described a technique for early postnatal cranial vault reduction and fixation (CVRF), in which the calvarial bones are stabilized using absorbable fixation plates in the neonatal period, in an attempt to facilitate patient positioning, simplify hydrocephalus management, and improve cosmesis. Here, the authors describe their institutional experience managing patients with extreme neonatal hydrocephalus with CSF diversion, with and without CVRF, over the past 12 years. METHODS The authors retrospectively reviewed the charts of infants with extreme hydrocephalus (head circumference > 49 cm) treated at their children's hospital with ventriculoperitoneal shunting, with or without CVRF, between 2005 and 2017. Data collected included age, sex, etiology of hydrocephalus, type of CVRF performed (anterior, posterior, or combined), follow-up duration, orbitofrontal circumference, craniometric measurements, intraoperative blood loss, operative duration, and postoperative complications. Developmental data were collected using the third edition of the Ages and Stages Questionnaire. Photographic imaging was used to demonstrate esthetic outcomes, and family questionnaires were used to evaluate satisfaction with the esthetic outcome. RESULTS Eleven patients with extreme neonatal hydrocephalus underwent CSF shunting; 5 underwent shunting alone and 6 patients underwent shunting and CVRF. For patients who underwent shunting and CVRF, the median age at CVRF was 6 days and the median interval between shunt placement and CVRF was 2.5 days. The mean extent of calvarial vault volume reduction was 44.5% (± 3.9%). The mean duration of the CVRF procedure was 108 minutes, and 5 of 6 patients required intraoperative transfusion. Of the 5 patients who underwent shunting alone, 3 developed severe cranial deformities. Of 6 patients who underwent shunting and CVRF, 1 had a poor cosmetic outcome. In the shunting-alone group, 2 patients died and 1 required extensive cranial vault correction at 10 years of age. One patient in the shunting and CVRF group also died. CONCLUSIONS CVRF in combination with CSF shunting in the neonatal period can simplify the treatment of the rare case of severe hydrocephalic macrocephaly and leads to cosmetic outcomes that are considered good by their families.

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.

PurposeHeterozygous germ-line activating mutations in PDGFRB cause Kosaki and Penttinen syndromes and myofibromatosis. We describe a 10-year-old child with a germ-line PDGFRB p.N666H mutation who responded to the tyrosine kinase inhibitor imatinib by inhibition of PDGFRB.MethodsThe impact of p.N666H on PDGFRB function and sensitivity to imatinib was studied in cell culture.ResultsCells expressing the p.N666H mutation showed constitutive PDGFRB tyrosine phosphorylation. PDGF-independent proliferation was abolished by imatinib at 1 µM concentration. Patient fibroblasts showed constitutive receptor tyrosine phosphorylation that was also abrogated by imatinib with reduced proliferation of treated cells.This led to patient treatment with imatinib at 400 mg daily (340 mg/m2) for a year with objective improvement of debilitating hand and foot contractures, reduced facial coarseness, and significant improvement in quality of life. New small subcutaneous nodules developed, but remained stable. Transient leukopenia, neutropenia, and fatigue resolved without intervention; however, mildly decreased growth velocity resulted in reducing imatinib dose to 200 mg daily (170 mg/m2). The patient continues treatment with ongoing clinical response.ConclusionTo our knowledge, this is one of the first personalized treatments of a congenital disorder caused by a germ-line PDGF receptor mutation with a PDGFRB inhibitor.

A Retrospective Analysis of the Utility of Head Computed Tomography and/or Magnetic Resonance Imaging in the Management of Benign Macrocrania.

OBJECTIVE: To assess whether computed tomography (CT), magnetic resonance imaging (MRI), and neurosurgical evaluations altered the diagnosis or management of children diagnosed with benign macrocrania of infancy by ultrasonography (US). STUDY DESIGN: We queried our radiology database to identify patients diagnosed with benign macrocrania of infancy by US between 2006 and 2013. Medical records of those with follow-up CT/MRI were reviewed to determine clinical/neurologic status and whether or not CT/MRI imaging resulted in diagnosis of communicating hydrocephalus or required neurosurgical intervention. RESULTS: Patients with benign macrocrania of infancy (n = 466) were identified (mean age at diagnosis: 6.5 months). Eighty-four patients (18.0%) received subsequent head CT/MRI; of these, 10 patients had neurologic abnormalities before 2 years of age, of which 3 had significant findings on MRI (temporal lobe white matter changes, dysmorphic ventricles, thinned corpus callosum). One patient without neurologic abnormalities had nonspecific white matter signal abnormality (stable over 6 months) but no change in management. None required neurosurgical intervention. Another 9/84 patients had incidental findings including Chiari I (3), small subdural bleeds (2), arachnoid cyst (1), small cavernous malformation (1), frontal bone dermoid (1), and a linear parietal bone fracture after a fall (1). CONCLUSIONS: Children diagnosed with benign macrocrania of infancy on US without focal neurologic findings do not require subsequent brain CT/MRI or neurosurgical evaluation. Decreasing unnecessary imaging would decrease costs, minimize radiation and sedation exposures, and increase clinic availability of neurology and neurosurgery specialists.

Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.

The authors present the case of a child with megalencephaly-capillary malformation syndrome who developed a rapidly progressive holocord syringomyelia that was treated surgically. A 3-year-old boy with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased seizures. An MRI study of the brain demonstrated a Chiari I malformation and massively dilated syringomyelia extending from C-2 to the conus medullaris. The patient underwent an urgent suboccipital craniectomy with C1-3 laminectomies to relieve the CSF outflow obstruction with significant clinical improvement. Surgery was complicated by bleeding from intracranial vascular malformations. This report describes a very rapidly developing, massive holocord syringomyelia related to CSF obstruction due to an unusual congenital brain malformation and associated vascular overgrowth at the site. Serial, premorbid MRI studies demonstrated the very rapid progression from no Chiari malformation, to progressively greater cerebellar tonsillar herniation, to holocord syrinx. This complication has never been reported in MCAP syndrome and should be considered in any affected MCAP patient with a progressive neurological decline, even if previous spine imaging findings were normal. Surgical complications due to hemorrhage also need to be considered in this vascular brain malformation.

The Gorlin-Goltz Syndrome: diagnosis of a case associated with heart disease and type 2 diabetes mellitus / Síndrome de Gorlin-Goltz: diagnóstico de um caso associado à cardiopatia e diabetes mellitus 2

The Gorlin-Goltz syndrome (GGS) is a hereditary, autosomal dominant condition, with high penetrance and variable expressivity, resulting from mutations in the genes PTCH1, PTCH2, or SUFU. The diagnosis is based on the presence of 2 major criteria or a major criterion associated with 2 minor criteria, including multiple basal cell carcinomas, keratocystic odontogenic tumor (KOT), and bifid rib. Other endocrine, neurological, ophthalmologic, genital, respiratory, and cardiovascular alterations are found in the literature, but with variable manifestations. This study reports the case of a patient diagnosed with GGS associated with diastolic congestive heart failure and type 2 diabetes mellitus, who underwent multiple treatments for components of the syndrome. More recently, the patient underwent decompression followed by cystic enucleation of two KOTs in the jaw, oral rehabilitation with removable prosthodontics, cardiological evaluation, and attempted clinical control of endocrine and cardiac problems.

A síndrome de Gorlin-Goltz (SGG) é uma condição hereditária, autossômica dominante, com alta penetrância e expressividade variável, decorrente de mutações nos genes PTCH1, PTCH2 ou SUFU. O diagnóstico é baseado na presença de dois critérios maiores ou um critério maior associado a dois critérios menores, dentre eles múltiplos carcinomas basocelulares, tumor odontogênico ceratocístico (TOC) e costela bífida. Outras alterações endócrinas, neurológicas, oftalmológicas, genitais, respiratórias e cardiovasculares são encontradas na literatura, porém com manifestações variáveis. O objetivo deste trabalho é relatar um caso clínico de uma paciente sistematicamente diagnosticada com SGG associada à insuficiência cardíaca congestiva diastólica e diabetes mellitus 2 submetida a tratamentos seriados das respectivas manifestações sindrômicas. Mais recentemente, à descompressão cística seguida da enucleação de dois TOC em mandíbula, reabilitação oral com prótese total removível, avaliação cardiológica e tentativa de controle clínico das alterações endócrinas e cardíacas.

Focal megalencephaly: intraoperative ultrasound imaging in epilepsy surgery.

Hemimegalencephaly is a rare neuronal migration disorder that can be defined as abnormal neural and glial proliferation localized to all or part of a cerebral hemisphere. Most patients demonstrate intractable epilepsy, with early onset before 1 year of age. Surgical resection is one of the treatment options. In recent years, many advanced intraoperative techniques have been used for brain surgery for various pathologies. Intraoperative ultrasonography is a time-saving and noninvasive method for intraoperative imaging. In this report, we present the use of intraoperative ultrasonography in a patient with focal megalencephaly as an anatomical navigation with the functional navigation system, electrocorticography. In this report, we present the use of intraoperative ultrasonography in a patient with focal megalencephaly as an anatomical navigation with the functional navigation system, electrocorticography.

Reverse Distraction Cranioplasty for Treatment of Hydrocephalic Megalocephaly.

Macrocephaly resulting from untreated hydrocephalus is a rare but difficult condition to treat. The patient presented is a 6-year-old boy who had progressively increasing head size since birth secondary to untreated hydrocephalus with associated developmental delay. His initial head circumference was 69 cm, and computed tomography scan showed evidence of obstructive hydrocephalus. For the first stage of the procedure, bicoronal and circumferential strip craniectomies were performed, 5 fully open 3.5 mm midface distractors were placed to facilitate vault reduction, and absorbable plates were placed in the frontoorbital region. Neurosurgery also performed an endoscopic third ventriculostomy and placed an external ventricular drain. Reverse distraction was completed over 5 days and tolerated well by the patient. Three months after the first procedure, the distractors were removed and frontoorbital reduction and additional cranial vault reduction and reshaping were performed. At 1 month following this operation he was noted to have excellent forehead contour and dramatic improvement of his macrocephaly with some remaining mid-vault asymmetry. His head circumference was measured at 61.5 cm with bicoronal distance of 39.5 cm. He demonstrated improvement in head control and ability to sit. This patient demonstrates a new technique for reduction cranioplasty involving the use of reverse distraction to facilitate gradual and controlled reduction prior to extensive cranial vault remodeling. The challenges associated with managing hydrocephalus in cranial vault reduction patients are also addressed.

Management of Vascular Anomalies and Related Conditions Using Suction-Assisted Tissue Removal.

UNLABELLED: Vascular anomalies and related conditions cause overgrowth of tissues. The purpose of this study was to determine the efficacy and safety of liposuction techniques for pediatric overgrowth diseases. Patients treated between 2007 and 2015 who had follow-up were reviewed. Seventeen patients were included; the median age was 12.7 years. The causes of overgrowth included infiltrating lipomatosis (n = 7), capillary malformation (n = 6), hemihypertrophy (n = 1), infantile hemangioma (n = 1), lipedema (n = 1), and macrocephaly-capillary malformation (n = 1). Forty-seven percent had enlargement of an extremity, 41 percent had facial hypertrophy, and 12 percent had expansion of the trunk. All subjects had a reduction in the size of the overgrown area and improved quality of life. Suction-assisted tissue removal is an effective technique for reducing the volume of the subcutaneous compartment for patients with pediatric overgrowth diseases. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Reduction cranioplasty for macrocephaly with long-standing hydrocephalus and non-fused fontanelle in Chiari malformation type I.

INTRODUCTION: Because hydrocephalus is diagnosed and treated at an early stage in pediatric patients, pediatric neurosurgeons rarely encounter patients with hydrocephalic macrocephaly. There are even fewer cases of infants with long-standing hydrocephalus in whom macrocephaly progresses and is accompanied by skull defect due to malunion of suture lines despite long-term CSF diversion treatment. CASE REPORT: We report the case of a male infant with Chiari malformation type I who presented with congenital hydrocephalus and occipital encephalocele that progressed to hydrocephalic macrocephaly with frontal skull defect, despite numerous cerebrospinal fluid diversion operations. The patient eventually recovered successfully after reduction cranioplasty.

A novel application of computer-aided design and manufacturing for reduction cranioplasty.

Macrocephaly is a rare presentation of untreated hydrocephalus. In cases where medical management has failed, macrocephaly can be managed with reduction cranioplasty. Traditionally, reduction cranioplasty is highly dependent on intraoperative tailoring of bone segments to obtain the best possible result and involves high risks of associated severe blood loss and mortality. In this clinical report, we describe a patient with hydrocephalus macrocephaly treated with reduction cranioplasty with the innovative use of computer-aided design and manufacturing to reduce intraoperative risks and improve efficiency. We used computer-aided design to plan osteotomy sites and the final positioning of bone segments. We also utilized computer-aided manufacturing to produce cutting guides, positioning guides, and models to increase precision and improve the final positioning of the cranium. Computer-aided design and manufacturing technology has enabled a shift of the planning burden of complicated craniofacial reconstructions from the intraoperative to the preoperative phase. With a completed plan and premade guides and models, it is possible to minimize the risks, improve efficiency, and obtain a precise, aesthetic result.

Reduction cranioplasty for macrocephaly caused by giant occipital cystic lesion.

Reduction cranioplasty for macrocephaly improves patients' quality of life both functionally and aesthetically. However, it is indicated for only a small number of patients because of the risks of complications. Thus, it is rarely performed, and not many reports have been published. In Dandy-Walker syndrome, there is often a posterior fossa cyst continuous with the fourth ventricle. We report here a case of scaphocephalic macrocephaly because of such a cystic lesion. The patient underwent a single-stage surgery with plication of the cyst wall and posterior reduction cranioplasty. This procedure achieved good results.