In glucose transporter 1 deficiency syndrome (Glut1DS), glucose transport into brain is reduced due to impaired Glut1 function in endothelial cells at the blood-brain barrier. This can lead to shortages of glucose in brain and is thought to contribute to seizures. Ketogenic diets are the first-line treatment and, among many beneficial effects, provide auxiliary fuel in the form of ketone bodies that are largely metabolized by neurons. However, Glut1 is also the main glucose transporter in astrocytes. Here, we review data indicating that glucose shortage may also impact astrocytes in addition to neurons and discuss the expected negative biochemical consequences of compromised astrocytic glucose transport for neurons. Based on these effects, auxiliary fuels are needed for both cell types and adding medium chain triglycerides (MCTs) to ketogenic diets is a biochemically superior treatment for Glut1DS compared to classical ketogenic diets. MCTs provide medium chain fatty acids (MCFAs), which are largely metabolized by astrocytes and not neurons. MCFAs supply energy and contribute carbons for glutamine and γ-aminobutyric acid synthesis, and decanoic acid can also block α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid glutamate receptors. MCTs do not compete with metabolism of ketone bodies mostly occurring in neurons. Triheptanoin, an anaplerotic but also gluconeogenic uneven MCT, may be another potential addition to ketogenic diets, although maintenance of \"ketosis\" can be difficult. Gene therapy has also targeted both endothelial cells and astrocytes. Other approaches to increase fuel delivery to the brain currently investigated include exchange of Glut1DS erythrocytes with healthy cells, infusion of lactate, and pharmacological improvement of glucose transport. In conclusion, although it remains difficult to assess impaired astrocytic energy metabolism in vivo, astrocytic energy needs are most likely not met by ketogenic diets in Glut1DS. Thus, we propose prospective studies including monitoring of blood MCFA levels to find optimal doses for add-on MCT to ketogenic diets and assessing of short- and long-term outcomes.

We report the case of a 32-year-old male who presented with an acute myopic shift as a result of uveal effusion following a single administration of 250 mg acetazolamide. The drug was discontinued and following cycloplegia and topical steroid therapy, we observed progressive deepening of the anterior chamber, reopening of the iridocorneal angle, and complete resolution of the myopic shift after 5 days. A literature review since 1956 identified 23 cases, including ours, which developed a myopic shift after a median time of 24 h (3 - 24) following a median dose of 500 mg (125 - 1000) acetazolamide, with about a third complicated by angle closure ocular hypertension. This presumed idiosyncratic reaction can occur without prior drug exposure and independent of the phakic status. Treatment options include systematic drug withdrawal associated with cycloplegia, anti-glaucomatous agents, and/or corticosteroids. Full recovery is achieved within about 5 days (2 - 14). Given the widespread use of acetazolamide, awareness of this idiosyncratic reaction is crucial to avoid complications of acute angle-closure glaucoma.
Wir schildern den Fall eines 32-jährigen Mannes, der nach der Einnahme von 250 mg Acetazolamid eine akute Myopisierung aufgrund einer Uvealeffusion entwickelte. Nach dem Absetzen des Medikaments und unter Anwendung von Zykloplegie und topischer Steroidtherapie konnten wir nach 5 Tagen eine fortschreitende Vertiefung der Vorderkammer, die Wiedereröffnung des iridokornealen Winkels und die vollständige Auflösung der Myopisierung beobachten. Eine Literaturrecherche seit 1956 identifizierte 23 Fälle, einschl. unseres eigenen, in denen eine Myopisierung nach einer medianen Zeit von 24 h (3 – 24) nach einer medianen Dosis von 500 mg (125 – 1000) durch Acetazolamid auftrat. Etwa ein Drittel wurde durch einen Winkelblock mit okulärer Hypertonie kompliziert. Diese vermutlich idiosynkratische Reaktion kann ohne vorherige Medikamenteneinnahme und unabhängig vom Linsenstatus auftreten. Behandlungsoptionen umfassen systematisches Absetzen des Medikaments in Verbindung mit Zykloplegie, antiglaukomatösen Medikamenten und/oder Kortikosteroiden. Eine vollständige Auflösung tritt in etwa 5 Tagen ein (2 – 14). Aufgrund der weit verbreiteten Anwendung von Acetazolamid ist das Wissen über diese idiosynkratische Reaktion entscheidend, um Komplikationen eines Winkelblockglaukoms zu vermeiden.

UNASSIGNED: Sodium channel myotonia (SCM) belongs to the group of sodium channelopathies with mutations involving SCN4A gene. The main feature of sodium channel myotonia is pure myotonia without episodes of weakness or paralysis. One of the sodium channel myotonia has been classified as acetazolamide-responsive myotonia because of the effectiveness of acetazolamide as an antimyotonic drug.
UNASSIGNED: The child presented with generalized muscle hypertrophy and stiffness involving arms, thighs, calves, chest, and back muscles with unusually prominent trapezius muscle. The parents described the warm-up phenomenon as an improvement in stiffness as the day passes and with repetitive action. Percussion myotonia was illustrated in the thenar eminence and trapezius muscle. Characteristic \'dive-bomber\' sound was present in electromyography, and whole-exome sequencing revealed a novel Ile239Thr mutation in the SCN4A gene. Acetazolamide was prescribed for the condition, and regular follow-up shows an excellent clinical response.
UNASSIGNED: This case presents a pure myotonic phenotype without episodes of weakness or paralysis. Generalized myotonia with muscle hypertrophy and demonstrating warm-up phenomenon resembles myotonia congenita (a chloride channelopathy). However, genetic analysis revealed a novel Ile239Thr mutation involving SCN4A gene indicating this case to be a sodium channelopathy.
UNASSIGNED: This case limelight sodium channel myotonia with a novel Ile239Thr mutation in SCN4A gene that phenotypically resembles myotonia congenita but genetically belongs to sodium channelopathy highlighting the poor correlation between genotypes and phenotypes in non-dystrophic myotonia. Acetazolamide can be a safe and cost-effective antimyotonic drug in sodium channel myotonia.

OBJECTIVE: The aim is to investigate the clinical characteristics of systemic lupus erythematosus with intracranial hypertension.
METHODS: The clinical characteristics of one case of systemic lupus erythematosus with chronic persistent intracranial hypertension were analyzed, and related literature was reviewed by searching Medline and Wanfang databases.
RESULTS: Intracranial hypertension in SLE patients may occur at the onset or during the course of the disease. Our patient was diagnosed with IH 3 years after the onset of SLE. Headache and papilledema were the most common symptoms of intracranial hypertension, followed by nausea or vomiting, vision changes, and cerebral palsy. Our patient had a headache and cranial hypertension that lasted for years, but no papilledema was found. Corticosteroid is currently the mainstay of the treatment of IIH in patients with SLE, and immunosuppressive agents, acetazolamide, intravenous mannitol and furosemide are also used. However, our patient did not respond to these treatments and presents the characteristics of chronic persistent intracranial hypertension.
CONCLUSIONS: Systemic lupus erythematosus with intracranial hypertension is a rare manifestation of SLE, which is not completely parallel to SLE activity. Headache and papilledema were the most common presenting symptoms. Different from previous reported cases, our patient had poor response to treatments, showing chronic and persistent characteristics.

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UNASSIGNED: Idiopathic intracranial hypertension (IIH) is a disorder that primarily affects obese women of reproductive age. The exact pathogenesis of IIH is unknown though multiple etiologies have been proposed.
UNASSIGNED: We report a case of IIH triggered by first-time Ramadan intermittent fasting (RIF) in an 18-year-old woman. Our patient developed new onset headaches, diplopia, and pulsatile tinnitus with examination notable for bilateral papilledema and lumbar puncture revealing an elevated opening pressure. Her symptoms resolved after cessation of RIF, apart from persistent left sided tinnitus which later resolved with acetazolamide administration.
UNASSIGNED: This case report uniquely illustrates that RIF may provoke symptomatic IIH. We hypothesize that a decreased concentration of glucagon-like peptide-1 (GLP-1) induced by fasting results in decreased GLP-1 receptor activation in the choroid plexus, allowing for increased CSF secretion into the ventricles invoking increased intracranial pressure (ICP). This theoretical mechanism provides further insight as to the possible underlying pathophysiology of IIH.

Metabolic alkalosis is an uncommon clinical entity resulting from a wide variety of underlying etiologies including gastrointestinal, renal, endocrine, and metabolic causes. It is a typically clinically silent condition; however, severe cases can be life-threatening, mandating both a systematic investigative approach and an early aggressive management strategy.
We present a case of a 58-year-old man with severe, multifactorial metabolic alkalosis (pH 7.72, HCO3- 42 mmol/L, pCO2 31 mm Hg) resulting from refractory vomiting, severe hypokalemia (2.0 mmol/L), and hypoalbuminemia (albumin 20 g/L). WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Severe metabolic alkalosis is associated with significant morbidity and mortality. Clinicians need to be aware of the potential underlying causes in these cases, as well as how to delineate between chloride- and non-chloride-depleted states, which dictates initial treatment. We provide a pragmatic summary of the evaluation, pertinent investigations, and early management of these cases.

We report a unique case of a 53-year-old male with idiopathic intracranial hypertension (IIH), predominantly affecting overweight young women. The patient, known to have diabetes mellitus, familial Mediterranean fever, and dyslipidemia, presented with blurred vision and throbbing headaches. Clinical examination, brain MRI/MRV, and a lumbar puncture confirmed the IIH diagnosis. Management with acetazolamide improved the patient\'s symptoms significantly. This case highlights the potential for IIH occurrence in men and underscores the need for early diagnosis and intervention to prevent potential visual impairment, typically more severe in male patients.

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A 61-year-old man with uncontrolled increased intraocular pressure after cataract surgery was treated with acetazolamide. Three days later, he developed acute chest pain requiring emergency treatment. What would you do next?