Whether cranial expansion is indicated in selected cases with microcephaly?

PURPOSE: Some children with microcephaly experienced severe social emotional deficits during their 1-2 years of age. Cranial expansion is generally not used in these cases. Our aim is to assess whether such operation is effective to improve their social emotional status, and thereby boosting their functional development in selected cases with such condition. METHODS: A retrospective cohort review in microcephalic cases who had undergone cranial expansion in Shanghai Children's Hospital since Jun. 2016 to Jun. 2017 with at least 12 months follow-up was conducted. Inclusion and exclusion criteria were set for the selection of the target patients in the current study. Our study focused on the changes of social emotional status (evaluated by The Infant-Toddler Social and Emotional Assessment, ITSEA) and functional development (applying neurodevelopmental questionnaire) pre- and 12 months post-op in these cases. RESULTS: A total of 14 cases were included in the current study. On the basis of a 2-cm enlargement during surgery(1 cm advancement of fronto-orbital rim on each side), HC continued to increase at an average of 0.5 cm in one year after the procedure in these cases, making its corresponding standard deviation improve from -4.5 to -3.4. Among those 14 cases, 11 (78.6%) showed improvement in all of these four domains in ITSEA at 12 months post-op. Scores were significantly better at 12 months post-op with p < 0.01 compared with those in domains of internalizing behavior and dysregulation behavior pre-operatively. Improvement was observed with p < 0.05 in domains of externalizing behavior and social-emotional competence as well. With regard to functional development, 8 cases (57.1%) were revealed improvement in all of these three sections of motor, speech and cognitive function in the questionnaire, 5 (35.7%) concluded partially upgraded in 1 or 2 sections. Only one (7.1%) showed no change during the follow-up. No surgery-related complications were recorded in the current study. CONCLUSION: When progressive copper-beaten sign is revealed in their serial skull X-rays, microcephalic cases with social emotional deficits in their 1-2 years of age could benefit from cranial expansion surgery with regard to improving their social emotional status and functional development.

Intracranial aneurysms in microcephalic primordial dwarfism: a systematic review.

BACKGROUND: Microcephalic primordial dwarfism (MPD) is a heterogeneous group of rare disorders. Recent studies have reported a significant percentage of patients with MPD suffering from a spectrum of cerebrovascular abnormalities, including intracranial aneurysms (IAs) and moyamoya syndrome. The neurological literature has not as yet specifically assessed IAs in this population. This systematic review aimed to assess the clinical behavior, characteristics, treatment modalities and outcomes of IAs in patients with MPD. METHODS: We performed a systematic search in PubMed, Ovid MEDLINE and Ovid EMBASE for cases of MPD with IAs. We included three illustrative cases from our institution. RESULTS: Twenty-four patients with 71 aneurysms were included in this study. Twelve patients (50%) presented with subarachnoid hemorrhage. The majority of patients were aged ≤18 years (70.8%), with a mean age of 16.2 years at presentation. Median aneurysm size was 3 (IQR 1.8-6) mm, and the most frequent locations were the internal carotid (37.3%) and middle cerebral arteries (23.8%). Concomitant moyamoya disease was reported in nine (37.5%) patients. Median age of aneurysm detection in screened patients was significantly lower than in non-screened patients (P=0.02). Microsurgical clipping (55.3%) and endovascular coiling (26.3%) were the most used modalities. Twenty-two cases were managed conservatively. Overall, mortality occurred in 45.8% of cases. CONCLUSIONS: Screening for cerebrovascular disease seems reasonable and effective to detect aneurysms at an earlier age in this population. Efforts in the literature to emphasize early and regular screening for these patients can positively impact outcomes in this population, however more evidence is needed.

Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.

AIM OF THE STUDY: Mowat Wilson syndrome (MWS) is a complex genetic disorder due to mutation or deletion of the ZEB2 gene (ZFHX1B), including multiple clinical features. Hirschsprung disease is associated with this syndrome with a prevalence between 43 and 57%. The aim of this study was to demonstrate the severe outcomes and the high complication rates in children with MWS, focusing on their complicated follow-up. METHODS: A retrospective comparative study was conducted on patients referred to Robert-Debré Children's Hospital for MWS from 2003 to 2018. Multidisciplinary follow-up was carried out by surgeons, geneticists, gastroenterologists, and neurologists. Data regarding patient characteristics, surgical management, postoperative complications, and functional outcomes were collected. RESULTS: Over this period of 15 years, 23 patients were diagnosed with MWS. Hirschsprung disease was associated with 10 of them (43%). Of these cases, two patients had recto-sigmoïd aganglionosis (20%), three had aganglionic segment extension to the left colic angle (30%), two to the right colic angle (20%), and three to the whole colon (30%). The median follow-up was 8.5 years (2 months-15 years). All patients had seizures and intellectual disability. Six children (60%) presented with cardiac defects. At the last follow-up, three patients still had a stoma diversion and 7 (70%) were fed orally. One patient died during the first months. Eight (80%) of these children required a second surgery due to complications. At the last follow-up, three patients reported episodes of abdominal bloating (42%), one recurrent treated constipation (14.3%), and one soiling (14.3%). Genetic analysis identified three patients with heterozygous deletions, three with codon mutations, and three with frameshift mutations. CONCLUSIONS: MWS associated with Hirschsprung disease has a high rate of immediate surgical complications but some patients may achieve bowel function comparable with non-syndromic HD patients. A multidisciplinary follow-up is required for these patients. LEVEL OF EVIDENCE: Retrospective observational single cohort study, Level 3.

Continuous Intracranial Pressure Monitoring in 24 Microcephalic Children with Developmental Delay: A Significant Portion of Microcephalic Children with Developmental Delay Have High Intracranial Pressure.

OBJECTIVE: The new direct gradual cranial expansion surgical technique has been used to treat children with postshunt microcephaly and slit ventricle syndrome. To evaluate the feasibility of this new surgical treatment, we studied intracranial pressure (ICP) in microcephalic children with developmental delay. METHODS: Mean ICP, age, sex, head size, and developmental assessments were compared in 24 microcephalic children with developmental delay who had had continuous ICP monitoring. RESULTS: Children studied included 9 boys and 15 girls with a mean age of 4.9 ± 2.0 years. Mean ICP was 18.7 ± 8.6 mm Hg. Children with high ICP had significantly lower age and higher B wave ratios than children with low ICP. There were no statistically significant differences in developmental scores and head sizes between children with high ICP and children with low ICP. In multiple linear regression analysis, we observed significantly increased risk of mean ICP elevation by B wave ratio and developmental score and decreased risk of mean ICP elevation by age, but not significantly increased risk of mean ICP elevation by head circumferences (z score). CONCLUSIONS: Our findings suggest that a portion of microcephalic children with developmental delay have high ICP that cannot be expected from head sizes, and high ICP has decreasing tendency with age.

Mowat-Wilson Syndrome Presenting With Purpura Fulminans.

Purpura fulminans is a rapidly progressive syndrome of intravascular thrombosis and hemorrhagic infarction of the skin. The most common infectious etiology is Neisseria meningitidis sepsis, and less commonly it has been documented as a complication of invasive Streptococcus pneumoniae In children who are otherwise healthy, splenic dysfunction is a significant predisposing factor for invasive pneumococcal infection. We present the case of a 10-month-old girl with a history of developmental delay, who developed an overwhelming infection complicated by purpura fulminans and was found to have previously undiagnosed Mowat-Wilson syndrome with anatomic asplenia. We propose screening patients with clinical features suggestive of Mowat-Wilson syndrome for asplenia to evaluate the need for additional preventive care.

Aortopulmonary collateral flow quantification by MR at rest and during continuous submaximal exercise in patients with total cavopulmonary connection.

BACKGROUND: Aortopulmonary collateral flow is considered to have significant impact on the outcome of patients with single ventricle circulation and total cavopulmonary connection (TCPC). There is little information on collateral flow during exercise. PURPOSE: To quantify aortopulmonary collateral flow at rest and during continuous submaximal exercise in clinical patients doing well with TCPC. STUDY TYPE: Prospective, case controlled. POPULATION: Thirteen patients with TCPC (17 (11-37) years) and 13 age and sex-matched healthy controls (18 (11-38) years). FIELD STRENGTH: 1.5T; free breathing; phase sensitive gradient echo sequence. ASSESSMENT: Blood flow in the ascending and descending aorta and superior vena cava were measured at rest and during continuous submaximal physical exercise in patients and controls. Systemic blood flow (Qs ) was assumed to be represented by the sum of flow in the superior caval vein (Qsvc ) and the descending aorta (QAoD ) at the diaphragm level. Aortopulmonary collateral flow (Qcoll ) was calculated by subtracting Qs from flow in the ascending aorta (QAoA ). STATISTICS: Mann-Whitney U-test and Wilcoxon test for comparison between groups and between rest and exercise. RESULTS: Absolute collateral flow in TCPC patients at rest was 0.4 l/min/m2 (-0.1-1.2), corresponding to 14% (-2-42) of Qs . Collateral flow did not change during exercise (difference -0.01 (-0.7-1.0) l/min/m2 , P = 0.97). TCPC patients had significantly lower Qs at rest (2.5 (1.6-4.1) vs. 3.5 (2.6-4.8) l/min/m2 , P = 0.001) and during submaximal exercise (3.2 (2.0-6.0) vs. 4.8 (3.3-6.9) l/min/m2 , P = 0.001), compared to healthy controls. The increase in Qs with exercise was also significantly lower in patients than in healthy controls (median 0.6 vs. 1.2 l/min/m2 , P < 0.02). DATA CONCLUSION: Clinical patients doing well with TCPC have significant aortopulmonary collateral flow at rest (14% of Qs ) compared to healthy controls, which does not change during submaximal exercise. LEVEL OF EVIDENCE: 2 Technical Efficacy: Stage 3 J. Magn. Reson. Imaging 2018;47:1509-1516.

The Total Calvarial Transsutural Distraction Osteogenesis for 26 Children with Slit Ventricle, Craniosynostosis, or Microcephaly After Shunt Operation.

OBJECTIVE: Among shunt complications, the postshunt slit ventricle (PSSV) and the postshunt craniosynostosis (PSCS) may be managed by shunt valve upgrade and/or cranial expansion surgery. Here, we analyzed 26 children with PSSV, PSCS, or microcephaly who received simple generalized cranial expansion (ie, total calvarial transsutural distraction osteogenesis [TC-TSuDO]). METHODS: Among 254 children with shunt surgery, 26 children received TC-TSuDO. These 26 children included 14 with PSSV, 4 with PSCS, and 8 with both PSSV and PSCS. The mean age of patients who underwent shunt procedures was 8.2 ± 10.6 months, and the mean time interval from shunt surgery to TC-TSuDO was 26.8 ± 29.5 months. The mean age of children at the time of TC-TSuDO was 33.3 ± 30.2 months. We analyzed head circumferences, lumbar puncture pressures, development status, operative factors, and postoperative complications. RESULTS: The mean preoperative head circumference was -2.1 ± 1.9, which increased to -1.4 ± 2.1 (P < 0.001) postsurgically. The mean preoperative lumbar puncture pressure was 26.2 ± 10.7 cm H2O which decreased to 11.9 ± 3.5 cm H2O (P < 0.001) after surgery. The mean operation time was 138 ± 66 minutes. The mean intensive care unit stay was 0.27 ± 0.53 days. There were no mortalities but 2 patients suffered from distractor malfunction and 1 patient showed wound discharge. CONCLUSIONS: We suggest that postshunt complications such as PSSV or PSCS, especially those that are accompanied by increased intracranial pressure or postshunt microcephaly, may be managed for patients with TC-TSuDO, which has been shown to be safe, simple, and effective.

Difficult airway in Mowat-Wilson syndrome.

Mowat-Wilson syndrome is a rare congenital syndrome involving multiple system abnormalities. The most consistently present components include facial deformity, mental retardation, and Hirschsprung disease. We report the anesthetic management of a case of Mowat-Wilson syndrome, with a difficult airway, who underwent Duhamel's procedure and colostomy closure.

Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.

OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly. METHODS In conjunction with an approved prospective registry of patients with MOPD II, a prospectively collected institutional surgical database of children with MOPD II and intracranial vascular anomalies who underwent surgery was analyzed retrospectively to establish long-term outcomes. RESULTS Ten patients with MOPD II underwent surgery between 2005 and 2012; 5 patients had moyamoya disease (MMD), 2 had intracranial aneurysms, and 3 had both MMD and aneurysms. Patients presented with transient ischemic attack (TIA) (n = 2), ischemic stroke (n = 2), intraparenchymal hemorrhage from MMD (n = 1), and aneurysmal subarachnoid hemorrhage (n = 1), and 4 were diagnosed on screening. The mean age of the 8 patients with MMD, all of whom underwent extracranial-intracranial revascularization (14 indirect, 1 direct) was 9 years (range 1-17 years). The mean age of the 5 patients with aneurysms was 15.5 years (range 9-18 years). Two patients experienced postoperative complications (1 transient weakness after clipping, 1 femoral thrombosis that required surgical repair). During a mean follow-up of 5.9 years (range 3-10 years), 3 patients died (1 of subarachnoid hemorrhage, 1 of myocardial infarct, and 1 of respiratory failure), and 1 patient had continued TIAs. All of the surviving patients recovered to their neurological baseline. CONCLUSIONS Patients with MMD presented at a younger age than those in whom aneurysms were more prevalent. Microneurosurgery with either intracranial bypass or aneurysm clipping is extremely challenging but feasible at expert centers in patients with MOPD II, and good long-term outcomes are possible.

Visual Recovery and Endothelial Cell Survival After Descemet Stripping Automated Endothelial Keratoplasty for Failed Penetrating Keratoplasty Grafts­A Cohort Study.

PURPOSE: To assess visual recovery and donor cell survival after Descemet stripping automated endothelial keratoplasty (DSAEK) for the repair of failed penetrating keratoplasty (PK) grafts. METHODS: Best spectacle-corrected Snellen visual acuity results after DSAEK were compared with best-ever documented visual acuity (BDVA) results obtained with the previous PK graft in a prospective cohort study. Donor cell survival after DSAEK for PK repair was compared with cell survival after DSAEK for Fuchs endothelial dystrophy and pseudophakic bullous keratopathy. Differences in the logMAR best spectacle-corrected Snellen visual acuity and endothelial cell loss rates were calculated. RESULTS: Twenty-eight eyes with DSAEK for PK repair were identified, 21 of which lacked vision-limiting comorbidities. The mean follow-up was 18.4 ± 10.6 months. At 3 months postoperatively, 10/21 eyes (48%) regained their BDVA. By 24 months, only 14% remained with 0.2 logMAR below their BDVA. Endothelial cell counts decreased significantly faster in patients with DSAEK for failed PK (P = 0.024) or pseudophakic bullous keratopathy (P = 0.018) than in patients with DSAEK for Fuchs endothelial dystrophy. CONCLUSIONS: DSAEK for the restoration of failed PK grafts promotes rapid visual recovery within the visual limits of the previous PK graft. Increased endothelial cell loss is noted relative to other DSAEK indications, which may result in earlier endothelial graft failure in renovated PK.

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

INTRODUCTION: Majewski osteodysplastic primordial dwarfism type II (MOPDII) is characterized by severe prenatal and postnatal growth failure with microcephaly, characteristic skeletal dysplasia, an increased risk for cerebrovascular disease, and insulin resistance. MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner. This study aimed to determine the incidence of hip pathology in patients with molecularly confirmed MOPDII and to describe the functional outcomes of surgical treatment. METHODS: Thirty-three enrolled patients had a clinical diagnosis of MOPDII. Biallelic PCNT mutations or absent pericentrin protein was confirmed in 25 of these patients. Twelve patients (7 female) had appropriate clinical and radiographic records at this institution and were included in this study. The data collected included age at presentation, age at surgery, sex, body weight and height, weight-bearing status at diagnosis, and the clinical examination. RESULTS: Four patients (31%) had coxa vara: 3 unilateral and 1 bilateral. Three unilateral patients had in situ pinning at a mean age 4 years. The patient with bilateral coxa vara had valgus osteotomy at the age of 5 years. Two children had bilateral hip dysplasia and subluxation with no surgery. One patient had bilateral developmental hip dislocations. The patient was treated by open reduction-spica cast and 2 years after surgery, coxa valga was noted. Another patient was diagnosed at an age of 12 years with bilateral avascular necrosis of the hips. Four patients did not have hip pathology. CONCLUSIONS: Hip pathology is common among children with MOPDII; coxa vara is the most frequent diagnosis. Routine clinical and radiographic hip evaluation is important. The capital femoral epiphysis appears to slip down along the shaft, giving the appearance of a proximal femoral epiphysiolysis. A hip diagnosed with slipped capital femoral epiphysis in early life may progress to severe coxa vara. LEVEL OF EVIDENCE: Level IV.

[Use of Airwayscope with pediatric intlock in a patient with first and second branchial arch syndrome].

First and second branchial arch syndrome is a congenital anomaly of craniofacial dysplasia involving organs derived from the second branchial arch. The main characteristics are microtia and mandibular hypoplasia. A 6-year-old boy was scheduled for adenoidectomy and bilateral myringotomy and tube placement. Slow induction was performed with oxygen, nitrous oxide, and sevoflurane. No difficulties were encountered during mask ventilation, and rocuronium was administered intravenously. His epiglottis was not visible during laryngoscopy. Therefore, we used the Airwayscope (AWS). His glottis was visible after application of cricold pressure from the left side. However, we could not closely conform his epiglottis to the mark on the AWS. Therefore, we passed a fiberoptic bronchoscope through a tracheal tube and placed it in the AWS. We attempted to intubate the trachea, but could not guide the bronchoscope to his glottis. We then attempted to pull the tracheal tube to improve the mobility of the bronchoscope. Control of the bronchoscope consequently became easy We successfully guided it to his glottis and performed tracheal intubation. His condition was stable during the procedure. In conclusion, we safely performed tracheal intubation in a patient with first and second branchial arch syndrome using the AWS and a fiberoptic bronchoscope.

Surgical treatment for kyphoscoliosis in Cohen syndrome.

Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis of Cohen syndrome with a literature review. The patient was a 14-year-old male with the characteristics of Cohen syndrome: truncal obesity, mental retardation, arachnodactyly, microcephalia, and a facial malformation. Scoliosis was conservatively treated with a brace at 13 years of age, but the spinal deformity rapidly progressed within a year. Plain radiographs before surgery showed scoliosis of 47 degrees (T5-T11) and 79 degrees (T11-L3), and kyphosis of 86 degrees (T7-L1). One-stage anteroposterior corrective fusion of T4-L3 was scheduled after 2-week Halo traction. Postoperative respiratory management was carefully performed because of Cohen syndrome-associated facial malformation, obesity, and reduced muscle tonus. Respiration was managed with intubation until the following day and no respiratory problems occurred. After surgery, thoracolumbar scoliosis was 28 degrees (correction rate: 65%). Kyphosis was markedly improved from 86 degrees to 20 degrees, achieving a favorable balance of the trunk. The outcome is favorable at 6.5 years after surgery. In conclusion, Cohen syndrome is often complicated by spinal deformity, particularly kyphosis, that is likely to progress even in adulthood. In our patient, spinal deformity progressed within a short period, even with brace treatment. Surgery should be required before progression to the severe spinal deformity with careful attention to general anesthesia.

Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis.

This is a survey of the long-term result after various surgical treatments in a child with microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and craniosynostosis. We report a 17-year-old patient with MOPD II but some unusual clinical signs including bilateral knee dislocation, a misplaced upper lobe bronchus, and hypoplasia of the anterior corpus callosum. Because of premature fusion of several cranial sutures, the child developed signs of increased intracranial pressure with somnolence and papilledema. Cranial vault remodeling with fronto-orbital advancement was performed twice at the age of 16 and 21 months to open the abnormally closed suture, increase the intracranial volume, and relieve the elevated intracranial pressure. Following this procedure, the child's neurologic situation recovered significantly. Surgical procedure of fronto-orbital advancement and the performed reoperation in our patient were safe with no major complications intraoperatively and postoperatively with good functional and satisfying aesthetic outcomes in the long-term follow-up, expressed by the patient, his parents, and the surgeons.

Microdeletion 3q syndrome.

The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life.

Giant encephalocele: a study of 14 patients.

BACKGROUND: Giant encephalocele is a rare condition and few published reports are available in the English literature. It is a challenge to neurosurgeons, even today. This series consists of 14 patients with giant encephaloceles treated at our institute. MATERIAL AND OBSERVATION: Over a period of 8 years, from 2002 to 2009, 110 patients with encephaloceles were managed at our institute. Amongst them, 14 were children with giant encephaloceles. All patients had CT/MRI or both prior to surgery, and all were operated upon. Four patients were neonates, under 1 month of age, and 9/14 patients (64%) were under 3 months. The youngest child was a newborn baby aged 2 days. Except for 1 with an anterior encephalocele, the rest were patients with occipital encephaloceles. A CT scan was performed on 5 and an MRI on 1 patient. Both CT and MRI scans were performed on the other 8 patients. MRI/CT showed hydrocephalus in 10/14 patients. Of these, 7 required ventriculoperitoneal (VP) shunt, and the remaining 3 with mild to moderate hydrocephalus did not. Of the 7 patients who underwent VP shunt, 5 had a shunt during the encephalocele repair and 2 had a postoperative shunt for increasing hydrocephalus. RESULTS: Other associated anomalies recorded were acquired Chiari malformation in 3 patients, secondary craniostenosis with microcephaly in 5, and syringomyelia in 1 patient. All the patients underwent repair of encephalocele and 4 had suturectomy of coronal suture for the secondary craniostenosis. There were 2 postoperative deaths due to hypothermia. Among the 12 surviving patients, 9 had a good outcome and 3 had poor mental development. The present study shows overall good outcomes in 9/14 (66%) patients.

Preoperative and postoperative transcranial Doppler sonographic evaluations of the cerebral hemodynamics of craniostenosis.

OBJECTIVES: Making use of transcranial Doppler sonographic (TCD) technology to monitor the preoperative and postoperative changes in cerebral hemodynamics of sick children with craniostenosis and to evaluate the effects brought about by decompression surgery of craniostenosis by means of various changes in the parameters of cerebral blood flow. METHODS: Choosing bilateral middle cerebral arteries as target vessels by means of TCD and recording preoperative and postoperative cerebral blood flow velocities (peak systolic [Vs] and diastolic velocities [Vd]), pulsatility index (PI), blood pressure, and pulse rate. RESULTS: Among 11 cases of children with craniostenosis, postoperative Vs and Vd of 4 children aged 0 to 3 years old increased by 20.25 (14.75) and 15.75 (12.98) cm/s, respectively (P < 0.05); PI reduced by 0.09 (0.09) (P > 0.05); finger press marks could be found in 4 skull x-ray films, and ventricular dilatation was found in one of them. Postoperative Vs and Vd of 5 children aged 4 to 7 years old increased by 16.20 (15.39) and 15.00 (11.71) cm/s, respectively (P < 0.05); PI reduced by 0.14 (0.11) (P < 0.05); one of them experienced ventricular dilatation. In 2 children aged 11 years old, postoperative Vs, Vd, and PI increased by 2.50 (5.00) and 0.500 (3.79) cm/s and 0.09 (0.09), respectively (P > 0.05). An abnormality could be found in electroencephalograms of a child with Apert syndrome and 2 children with hydrocephalus. CONCLUSIONS: Operation can improve obviously younger sick children's cerebral blood flow velocity and PI; for older children, the improvement of diastolic cerebral blood flow velocity was more obvious than that of systolic cerebral blood flow velocity, and PI reduced distinctly, which showed that decompression surgery had a perfect effect on craniostenosis. The TCD parameters of an 11-year-old sick child who has a smaller head circumference but without intracranial hypertension could not be improved obviously. Transcranial Doppler sonography can be regarded as a simple and convenient tool for the noninvasive evaluation on the effect of decompression surgery of craniostenosis.

Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations.

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is a rare genetic syndrome characterized by extremely small stature and microcephaly, and is associated in 25% of patients with intracranial aneurysms and moyamoya disease. Although aneurysmal subarachnoid hemorrhage and stroke are leading causes of morbidity and death in these patients, MOPD II is rarely examined in the neurosurgical literature. The authors report their experience with 3 patients who presented with MOPD II, which includes a patient with 8 aneurysms (the most aneurysms reported in the literature), and the first report of a patient with both moyamoya disease and multiple aneurysms. The poor natural history of these lesions indicates aggressive microsurgical and/or endovascular therapy. Microsurgery, whether for aneurysm clip placement or extracranial-intracranial bypass, is challenging due to tight surgical corridors and diminutive arteries in these patients, but is technically feasible and strongly indicated when multiple aneurysms must be treated or cerebral revascularization is needed.