Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder that classically presents with a triad of vascular anomalies affecting the skin, eyes, and brain. Previously, the trigeminal nerve distribution of a port-wine birthmark (PWB) of the face was used to identify risk of SWS. However, recent evidence has demonstrated that PWBs are vascular, not neurologic, in embryologic origin, and facial PWBs at highest risk for the brain involvement of SWS involve the forehead location. Furthermore, a PWB involving the upper or lower eyelid carries a risk of glaucoma, which requires lifelong monitoring. The gold standard of treatment for PWB is the pulsed dye laser, which has many advantages when started as early as possible in infancy. In this review, we discuss the locations of facial PWBs at risk for neurologic and ophthalmologic complications, the differential diagnosis of facial vascular birthmarks, recommendations for patient referral(s) when needed, and the advantages of early laser therapy when desired for the PWB. We also provide additional resources for pediatricians to support patients and their families.

The Association of Dexmedetomidine on Perioperative Opioid Consumption in Children Undergoing Adenotonsillectomy With and Without Obstructive Sleep Apnea.

BACKGROUND: Dexmedetomidine is used to reduce opioid consumption in pediatric anesthesia. However, there is conflicting evidence in pediatric adenotonsillectomy literature regarding the total perioperative opioid-sparing effects of dexmedetomidine. The aim of this study was to examine the association between dexmedetomidine and total perioperative opioid consumption in children undergoing adenotonsillectomy. METHODS: This was a retrospective cohort study of the children undergoing adenotonsillectomy surgery at Texas Children's Hospital between November 2017 and October 2018. Intraoperative dexmedetomidine was the exposure of interest. The primary outcome was total perioperative opioid consumption calculated as oral morphine equivalents (OME). Secondary outcomes of interest included opioid consumption and pain scores based on presence and absence of obstructive sleep apnea (OSA) and postanesthesia care unit (PACU) duration. We used multivariable linear regression to estimate the association of dexmedetomidine on the outcomes. RESULTS: A total of 941 patients met inclusion criteria, 697 (74.1%) received intraoperative dexmedetomidine. For every 0.1 µg/kg increase in intraoperative dexmedetomidine, the total perioperative OME (mg/kg) decreases by 0.021 mg/kg (95% CI, -0.027 to -0.015; P < .001). Pain scores did not significantly vary by OSA status. PACU duration increased by 1.14 minutes (95% CI, 0.30-1.99; P = .008) for each 0.1 µg/kg of intraoperative dexmedetomidine. CONCLUSIONS: Dexmedetomidine is associated with an overall perioperative opioid-sparing effect in children undergoing adenotonsillectomy and a small but statistically significant increase in PACU duration. Additionally, children with OSA did not have reduced perioperative opioid consumption.

Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review.

BACKGROUND: Organic acidemias, especially propionic acidemia (PA) and methylmalonic acidemia (MMA), may manifest clinically within the first few hours to days of life. The classic presentation in the newborn period includes metabolic acidosis, hyperlactatemia, and hyperammonemia that is precipitated by unrestricted protein intake. Implementation of newborn screening to diagnose and initiate early treatment has facilitated a reduction in neonatal mortality and improved survival. Despite early diagnosis and appropriate management, these individuals are prone to have recurrent episodes of metabolic acidosis and hyperammonemia resulting in frequent hospitalizations. Liver transplantation (LT) has been proposed as a treatment modality to reduce metabolic decompensations which are not controlled by medical management. Published reports on the outcome of LT show heterogeneous results regarding clinical and biochemical features in the post transplantation period. As a result, we evaluated the outcomes of LT in our institution and compared it to the previously published data. STUDY DESIGN/METHODS: We performed a retrospective chart review of nine individuals with PA or MMA who underwent LT and two individuals with MMA who underwent LT and kidney transplantation (KT). Data including number of hospitalizations, laboratory measures, cardiac and neurological outcomes, dietary protein intake, and growth parameters were collected. RESULTS: The median age of transplantation for subjects with MMA was 7.2 years with a median follow up of 4.3 years. The median age of transplantation for subjects with PA was 1.9 years with a median follow up of 5.4 years. The survival rate at 1 year and 5 years post-LT was 100%. Most of our subjects did not have any episodes of hyperammonemia or pancreatitis post-LT. There was significant reduction in plasma glycine post-LT. One subject developed mild elevation in ammonia post-LT on an unrestricted protein diet, suggesting that protein restriction may be indicated even after LT. CONCLUSION: In a large single center study of LT in MMA and PA, we show that LT may reduce the incidence of metabolic decompensation. Moreover, our data suggest that LT may be associated with reduced number of hospitalizations and improved linear growth in individuals with PA and MMA.

Prevalence and surgical management of cholesteatoma in Down Syndrome children.

OBJECTIVE: The objective was to report the outcomes of surgical management of cholesteatoma in Down Syndrome (DS) children and to determine the prevalence of cholesteatoma in DS children at three academic tertiary care centers. METHODS: A retrospective chart review was performed of all DS children diagnosed with cholesteatoma from three tertiary care academic centers. Demographic data, comorbidities, imaging findings, surgical management, and pre- and postoperative pure tone averages were collected. RESULTS: The prevalence of cholesteatoma in DS patients at these three institutions was calculated to be 8/802 (0.998%), 4/448 (0.893%), and 4/1016 (0.394%), with an average prevalence of 0.762%. Of the 16 patients with cholesteatoma identified, the average age of diagnosis was 10.8 years, and 5/16 (31%) had at least three sets of pressure equalizing tubes (PETs) placed. Of the 13 patients with preoperative CTs, 4/13 (30.8%) had blunting of the scutum, 4/13 (30.8%) had tegmen involvement, 1/13 (7.7%) had erosion of the semicircular canal, 2/13 had facial nerve dehiscence, and 7/13 (53.8%) had ossicular chain erosion. For surgical management, disease control was attained in 4/16 children with tympanoplasty only and canal wall up (CWU) tympanomastoidectomy in 11/16 patients. Available pre- and postoperative audiograms were evaluated; however, there was insufficient audiological data to contribute to outcomes. CONCLUSION: Cholesteatoma occurs in nearly 1% of DS patients, and the disease tends to be advanced with tegmen involvement in nearly a third of patients, and ossicular erosion seen in more than half the patients. A CWU procedure can be successful in managing DS patients with cholesteatoma when consistent long term follow-up is planned. Close monitoring and a high index of suspicion for cholesteatoma are essential to prevent delays in diagnosis and treatment of DS patients with a history of multiple sets of PET placement.

Hair regrowth in cicatricial alopecia: A literature review.

Cicatricial alopecias (CA) describes multiple subtypes of hair loss in which the hair follicle is destroyed by an unknown inflammatory mechanism. The main goal of treatment is to stop this inflammatory process and prevent further hair loss; however, there have been occasional reports of hair regrowth following treatment in some subtypes of CA. This review aims to highlight these reports. A total of 71 cases of hair regrowth were found documented in the literature. The treatments used varied widely both between and within each subtype of alopecia. This review highlights that regrowth is possible in at least a subset of patients with cicatricial alopecia; however, the mechanism by which this occurs has yet to be elucidated.