Radiological features of horizontal gaze palsy with progressive scoliosis. An 'Aunt Minnie' diagnosis?

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive disorder characterized by congenital absence of normal horizontal eye movements and progressive scoliosis through childhood and adolescence. The characteristic radiological features in HGPPS are butterfly configuration of the medulla, split pons sign, selective volume loss of dorsomedial brainstem, relatively spared cerebellum, relatively prominent inferior olivary nucleus and absent posterior prominence of the facial colliculi and gracilis and cuneate nuclei. These radiological features are reflective of ROBO3 gene mutation required for hindbrain axon midline crossing. Awareness of this diagnosis is important as the radiological features are characteristic enough to be considered as a rare 'Aunt Minnie' and a radiologist may be the first one to raise the possibility of this diagnosis as in this case.

Why do subcutaneous ports get stuck? A case-control study.

PURPOSE: We sought to identify clinical features associated with difficult subcutaneous port removals in children. METHODS: Ports placed between April 2014 and September 2017 at our institution were prospectively tracked for difficult removals. A case-control analysis was performed. Patients with ports that were difficult to remove (stuck; cases) were compared to biological sex and age-matched controls in a ratio of 1:3. Logistic regression determined the association between case/control status and clinical features adjusting for biological sex and age as covariates. A multivariable analysis was performed to identify independent associations. RESULTS: 57 stuck ports (28 extreme [10 endovascular intervention] and 29 moderate) and 171 controls were analyzed. Stuck ports were associated with a diagnosis of acute lymphoblastic leukemia (86% cases versus 22.2% controls; p < 0.001) and a longer placement duration (median 2.6 years [interquartile range (IQR) 2.5-2.6] versus 0.8 years [IQR 0.5-1.4]; p < 0.001). On univariate analysis, procedural and device features associated with stuck ports included subclavian access (71.9% cases versus 48.5% controls; p = 0.0126), a polyurethane versus silicone catheter (96.5% cases versus 79.9% controls; p = 0.001), and a rough catheter appearance at removal (92.6% cases versus 9.4% controls; p < 0.0001). A diagnosis of ALL and duration of line placement were associated with having a stuck port on multivariate analysis. CONCLUSION: Polyurethane central venous catheters placed for the two-year treatment of acute lymphoblastic leukemia may become difficult to remove. This constellation of factors warrants more extensive preoperative discussion of risk, endovascular backup availability, and scheduling for longer operating room time.

Primary intramedullary spinal cord germinoma.

Primary intramedullary spinal cord germinoma (PISCG) is an exceedingly rare diagnosis, with fewer than 30 cases reported in the literature. It is even less common in the pediatric population. Usually, initial imaging at patient presentation reveals a mass. The authors describe the unique case of a child whose initial imaging showed only focal spinal cord atrophy, which was the earliest sign of a slowly growing intramedullary lesion that was eventually proven via biopsy to represent a PISCG. The authors outline this child's diagnostically challenging presentation, review the events leading up to a diagnosis, briefly discuss PISCG, and summarize their recommendations for other physicians who may encounter a similar case. They assert that PISCG should be considered as a rare entity in the differential diagnosis of progressive spinal cord dysfunction even in the absence of an MRI abnormality of an intrinsic spinal cord mass, especially if there is unexplained focal atrophy of the cord.