The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV.

PURPOSE: To present a case report of mucolipidosis type IV (ML4) and review the literature for all of the ophthalmic abnormalities associated with this disease. METHODS: A systematic review of the literature using PubMed/Medline was conducted, and with the addition of the current case report, the eye and ocular adnexa findings of 93 patients with ML4 are summarized. RESULTS: The most common ophthalmic findings reported among the 93 patients included corneal clouding (90.3%), strabismus (58.1%), optic nerve pallor (52.2%), retinal dystrophy/pigmentary changes (50.5%), and retinal vascular attenuation (38.9%). Other less commonly reported findings included nystagmus, photophobia, ocular pain, excessive lacrimation, ptosis, and cataracts. CONCLUSIONS: The ophthalmic findings discussed in the current case report and literature review serve as indicators for ML4. Early diagnosis of ML4 is important in forming a multidisciplinary management plan, genetic counseling strategy, and maximizing the visual development of affected individuals. [J Pediatr Ophthalmol Strabimus. 2022;59(5):332-337.].

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.

OBJECTIVES: To describe the first American patient with a congenital muscle dystrophy characterized by the presence in muscle of gigantic mitochondria displaced to the periphery of the fibers and to stress the potential origin and effects of the mitochondrial changes. DESIGN: Case report and documentation of a novel mutation in the gene encoding choline kinase beta (CHKB). SETTING: Collaboration between 2 tertiary care academic institutions. PATIENT: A 2-year-old African American boy with weakness and psychomotor delay. INTERVENTIONS: Detailed clinical and laboratory studies, including muscle biopsy, biochemical analysis of the mitochondrial respiratory chain, and sequencing of the CHKB gene. MAIN OUTCOME MEASURES: Definition of unique mitochondrial changes in muscle. RESULTS: This patient had the same clinical and laboratory features reported in the first cohort of patients, but he harbored a novel CHKB mutation and had isolated cytochrome c oxidase deficiency in muscle. CONCLUSIONS: Besides confirming the phenotype of CHKB mutations, we propose that this disorder affects the mitochondria-associated membrane and the impaired phospholipid metabolism in the mitochondria-associated membrane causes both the abnormal size and displacement of muscle mitochondria.

Lymphocytic hypophysitis in children: a novel presentation and literature review.

Lymphocytic hypophysitis, an autoimmune mediated chronic inflammation of the pituitary gland, is uncommon in children.(1) The usual presentation is with symptoms secondary to pressure from the enlargement of the gland itself and or impairment of pituitary hormones of varying degrees, in conjunction with a sellar mass.( 2,3) In 80% of cases, partial or panhypopituitarism is present with approximately 75% of cases having multiple hormonal deficiencies.(2) We report the case of a prepubertal female who presented with cyclical vomiting, as her initial symptom of lymphocytic hypophysitis which resolved promptly after pituitary biopsy. This case suggests that cyclical vomiting can be a symptom associated with lymphocytic hypophysitis. Therefore, it should be considered in the differential diagnosis of any child presenting with cyclical vomiting.

Childhood and teenage stroke.

OBJECTIVE: The purpose of this manuscript is to review the various etiologies and to discuss the therapeutic issues in childhood stroke. METHODS: A PubMed search of literature pertaining to childhood stroke was conducted from 1983 to 2008 using specific key search words pertinent to cerebrovascular disorders in childhood. RESULTS: The analysis of the multiple causes of childhood stroke including arterial ischemic strokes and cerebral venous thrombosis was presented. Current therapy and outcome data in childhood stroke are also discussed throughout the length of the article. CONCLUSIONS: With increasing vigilance among physicians and improved neuroimaging modalities, the diagnosis of childhood stroke is now made earlier, with increasing frequency and greater accuracy. However, larger and well-controlled studies regarding the optimal management of childhood stroke in terms of the use of both antithrombotic drugs and anticoagulation are still needed in addition to longitudinal follow-up studies of children with stroke.

Acute migraine: Current treatment and emerging therapies.

Migraine is a common disabling primary headache disorder. Despite the need for a perfect treatment of this debilitating condition, the ideal "cure" eludes us. In 1992, the first triptan was released in the US for use in acute migraine. Triptans are more specific for the serotonin receptor 5-hydroxy triptamine (5-HT) 1 than previously prescribed drugs, such as ergotamines, with fewer side effects. This was an important first step in specific acute migraine therapy. Today however, triptans continue to be underutilized. There remains a concern, among practitioners and patients, about possible cardiovascular safety issues, despite the lack of strong evidence of serious adverse events. In fact, triptans now have a safe track record over more than a decade of use. Other perceived downfalls to use, include cost and variable efficacy. The more we learn about the clinical features and pathophysiology of migraine, the closer we are to finding a satisfactory monotherapy. Until then, recognizing that mixed mechanisms underlie migraine symptoms, rational polytherapy can be useful. Research on the roles of serotonin, calcitonin gene related peptide, glutamine and N-methyl-D-aspartate in the trigeminovascular system holds promise for those searching for the perfect migraine headache cure.