Normocephalic sagittal craniosynostosis in young children is common and unrecognized.

OBJECTIVE: Sagittal craniosynostosis (SC) is usually diagnosed during early childhood by the presence of scaphocephaly. Recently, our group found 3.3% of children under 5 years of age with normocephalic sagittal craniosynostosis (NSC) using computed tomography (CT) scans. This paper aims to validate our preliminary findings using a larger cohort of patients, and analyze factors associated with incidental NSC. METHODS: A retrospective review of head CT scans in patients aged 0 to 71 months who presented to the emergency department of our tertiary care institution between 2008 and 2020 was completed. Patients with syndromes associated with craniosynostosis (CS), history of hydrocephalus, or other brain/cranial abnormalities were excluded. Two craniofacial surgeons reviewed the CT scans to evaluate the presence and extent of CS. Demographic information, gestational age, past medical and family history, medications, and chief complaint were recorded as covariates, and differences between patients with and without CS were analyzed. Furthermore, comparison of the prevalence of CS across age groups was studied. Additional analysis exploring association between independent covariates and the presence of CS was performed in two sub-cohorts: patients ≤ 24 months of age and patients > 24 months of age. RESULTS: A total of 870 scans were reviewed. SC was observed in 41 patients (4.71% - 25 complete, 16 incomplete), all with a normal cranial index (width/length > 0.7). The prevalence of SC increased up to 36 months of age, then plateaued through 72 months of age. Patients under 2 years of age with family history of neurodevelopmental disease had 49.32 (95% CI [4.28, 567.2]) times higher odds of developing CS. Sub-cohort of patients above 24 months of age showed no variable independently predicted developing CS. CONCLUSION: NSC in young children is common. While the impact of this condition is unknown, the correlation with family history of neurodevelopmental disease is concerning.

Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7.

We describe quantitative oculomotor findings in a patient with subclinical spinocerebellar ataxia type 7 (SCA7) and a borderline mutation of 38 CAG repeats and her daughter with SCA7 and 46 repeats. Both subjects demonstrated significant slowing of voluntary and involuntary saccades, but retinal examination was normal. Smooth pursuit and fixation suppression of VOR were mildly impaired. Slow saccades may be the earliest neurologic finding even in asymptomatic SCA7 patients with normal ocular fundi. The SCA7 mutation probably has an early impact on brainstem fast eye movement centers.

Familial benign recurrent vertigo.

Benign recurrent vertigo (BRV) has been previously linked to migraine but there have been no prior studies of families with BRV. We studied the families of 24 patients who presented to our clinic with BRV and who reported a family history of similar attacks of vertigo. All probands underwent diagnostic evaluation to exclude identifiable causes of recurrent vertigo and they completed a standardized medical questionnaire pertaining to episodic vertigo and the features of migraine. This questionnaire was also sent to all relatives of the probands who agreed to participate. Of 220 relatives who returned questionnaires, 37% reported BRV and 50% met the diagnostic criteria for migraine. By contrast, only one of 43 (2%) unrelated spouses reported BRV and 10 of 43 (23%) met the diagnostic criteria for migraine. More than two-thirds of relatives with BRV met the diagnostic criteria for migraine and the majority reported that they had a typical migraine headache with at least some of their episodes of vertigo. Both BRV and migraine showed a female preponderance (more than 2 to 1). Familial BRV seems to be a migraine syndrome, probably inherited in an autosomal dominant fashion with decreased penetrance in men. In the search for the causative gene, vertigo may be a more useful marker than migraine because recurrent vertigo is relatively rare in the general population whereas migraine is very common.

Vertigo and the enlarged vestibular aqueduct syndrome.

An enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear bony malformations in children with sensorineural hearing loss of unknown cause. Most previous reports have focused on hearing loss, but individuals with EVA may also experience paroxysmal vertigo lasting minutes to hours. We report the clinical vestibular features and vestibular function testing of two children and one adult with EVA who had a history of sensorineural hearing loss and presented to our Neurotology Clinic for the evaluation of episodic vertigo. All the patients had an antecedent history of profound bilateral sensorineural hearing loss that had been present since early childhood. The onset of vertigo was delayed into adulthood in one patient. Episodes of vertigo could be triggered by minor head trauma or vigorous physical activity. Despite recurrent episodes of vertigo, vestibular function was normal or moderately impaired compared with the severe auditory deficit. Careful analysis of temporal bone CT demonstrated EVA. Associated enlargement of the membranous endolymphatic sac was evident on brain MRI. While hearing loss is a prominent symptom in patients with EVA, vestibular symptoms may cause referral to a neurologist. Although hearing loss occurs early in childhood, vestibular symptoms can be delayed into adulthood, a finding not previously reported.

Complications of pediatric craniofacial surgery in the Orient: analysis of a 10-year experience.

Numerous reports on the complications of craniofacial surgery have been published in the western world. However, relatively little such information concerning Oriental populations has been documented. We therefore set out to provide a retrospective analysis of all the complications of craniofacial surgery encountered during the 10-year period of 1986 to 1995 at Seoul National University Children's Hospital, the only children's hospital in Korea. Forty-nine children underwent 57 consecutive craniofacial procedures at our institution during 1986 to 1995. A retrospective chart analysis of the frequency and types of complications was performed. Mantel-Haenszel chi-square tests were then calculated for several factors, including age at surgery, duration of surgery, intraoperative losses of hemoglobin and hematocrit, total amount of blood transfusion, and the number of complications according to year, diagnosis, and operative procedure to find any significant correlation with the incidence of complications. Mortality was 1.8%. The major complication rate was 7.0% and included cases of visual loss and persistent cerebrospinal fluid leak. Analysis revealed the presence of several trends, including an increased incidence of complications with increased patient age at surgery, duration of surgery, and intraoperative loss of hematocrit. The number of complications was also noted to increase in cases with complex craniofacial synostosis syndromes (Crouzon's, Apert's Antley-Bixler, etc.) and tumors of the orbit and cranium. Finally, complications were noted to decrease in recent years, most likely due to the increased experience of our craniofacial team. Nevertheless, statistical analysis revealed that the incidence of complications correlated significantly only with increased duration of surgery (p < 0.05). The results of our study indicate that although craniofacial surgery in the Orient carries an inherent risk for significant complications, the risk can be minimized and the rate of mortality and major complications kept to an acceptable level by a careful and experienced craniofacial team. Groups at most risk for complications are those with a long duration of surgery.

Transnasal canthoplasty.

The reconstruction of a traumatic telecanthus, particularly the repositioning and securing of the medial canthal tendon, presents a challenge to the reconstructive surgeon. The adequate positioning of the medial canthal tendon for proper intercanthal distance, and apposition of the lid to the globe, is the cornerstone of a successful reconstruction. The authors have developed a technique for transnasal canthoplasty that is fast, relatively easy, and safe. Transnasally, a 16-gauge spinal needle is introduced over a preplaced K-wire using a 4-0 Bunnell stainless wire suture (Ethicon, Somerville, NJ). The medial canthal tendon is lassoed, secured, and then fixed to the contralateral nasal bone. Six patients have undergone this technique to date. The authors believe this procedure offers an improvement to existing methods.