BACKGROUNDLate infantile ceroid lipofuscinosis is a rare neurodegenerative disorder that appears between the ages of 2 and 4 years and is difficult to diagnose. In this report we present two sisters with this condition, and the clinical course consisted of delayed developmental skills initially and later regression of previously acquired skills. The cases were initially considered as childhood disintegrative disorder (CDD); however, when whole exome sequencing (WES) genetic testing was done, they proved to be variant late infantile ceroid lipofuscinosis. This is the first report from Jordan.CASE SUMMARYClinical presentation included developmental delay and initially speech delay, followed by lose of sphincter control. Motor development was normal until 4 years of age, then they developed ataxia (fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures become intractable, and this was followed by inability to stand or sit and loss of expressive language. In addition to complete blood count test, liver function test, kidney function test, serum electrolyte test, and blood sugar test, serum amino acid profile, B12 level test, thyroid function test, and a brain computed tomography scan were also normal. An electroencephalogram showed a generalized spike and wave pattern, and magnetic resonance imaging showed little to no abnormalities. After dealing with the cases as CDD, WES testing proved a final diagnosis of variant late infantile ceroid lipofuscinosis. Current treatment is anti-epileptic drugs and supportive care at home, and they are now in vegetative state.CONCLUSIONThis report highlights the importance of WES for the identification of genetic diseases, especially neurodegenerative disorders.

Poliomyelitis eradication using the oral polio vaccine (OPV), also known as the Sabin vaccine, has been a major medical achievement led by the World Health Organization (WHO) and various countries. The OPV has been administered over 10 billion times to three billion children and has prevented over 13 million polio cases. With the more recent appearance of OPV-related complications, especially the vaccine-derived poliovirus (VDPV) and vaccine-associated polio paralysis, it is important to reconsider the role of this vaccine in polio eradication. Since 2014, the number of VDPV cases has exceeded the number of wild polio virus cases. Given that OPV is the only source of VDPV, an established phased plan to withdraw OPV from use and switch to an inactivated polio vaccine (IPV) was determined. Therefore, countries that still use the OPV in their national immunization programs need to develop adequate plans for supplying IPV in an effective and affordable manner. IPV provides protection against polio, but is insufficient for protection against poliovirus circulation when administered alone. Genetically engineered stabilized, live vaccines are being developed and guarantee the profit of Sabin OPV without the risk.

Background. Hypokalemic periodic paralysis is a rare neuromuscular disorder characterized by transient episodes of flaccid paralysis due to a defect in muscle ion channels. Most cases are hereditary, but it can be acquired. We present a case of acquired hypokalemic periodic paralysis associated with hyperthyroidism and renal tubular acidosis. Clinical Case. A 38-year-old female with a history of Graves’ disease presented to the emergency department with generalized weakness and associated nausea, vomiting, and weight loss. Examination was significant for diffuse weakness in all extremities. Labs showed hypokalemia, hyperthyroidism, and nonanion gap metabolic acidosis with a positive urine anion gap. She was treated for hypokalemic periodic paralysis and renal tubular acidosis. Potassium replacement, propranolol, methimazole, and sodium bicarbonate were initiated. Her potassium gradually corrected with resolution of her symptoms. Further investigation revealed a history of dry eyes, dry mouth, and recurrent dental carries. She had positive ANA, SS-A, and SS-B antibodies. She was diagnosed with Sjögren’s syndrome, which may have been associated with her Graves’ disease and thus contributed to both her RTA and hyperthyroidism. Conclusion. Early recognition and treatment of thyrotoxic periodic paralysis are important to prevent cardiac complications. Management includes potassium replacement with careful monitoring to prevent rebound hyperkalemia. The definitive treatment is to achieve euthyroid status.

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Anti-neutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis] (AAV) is an autoimmune disease characterized by systemic vascular inflammation. We present a case of a 76-year-old man who presented with shortness of breath, fatigue, and weakness. He was eventually diagnosed with hydralazine-induced ANCA-associated renal limited glomerulonephritis. The presentation of this case was unique for a few reasons; the patient showed an initial improvement in kidney function, was non-oliguric, and had no systemic signs of vasculitis. This led to the patient being discharged prematurely with the diagnosis of acute tubular necrosis. We discuss educational features of this case and warn future clinicians about the possibility of waxing and waning renal function in these patients, as well as the importance of having a higher index of suspicion for glomerulonephritis in patients who take hydralazine.