Dyskeratosis congenita (DC) is a rare hereditary disorder characterized by bone marrow failure, cancer predisposition (11-fold increase compared to general population), ectodermal dysplasia (nail dystrophy, oral leukoplakia, and abnormal skin pigmentation) and other additional somatic abnormalities. A 22-year-old man presented with fever, chills, and a painful throat. Leukoplakia was noted on his tongue and some of his fingers and toe nails were markedly dystrophic. His skin seemed spotted with pigmentation on the anterior chest and neck. Patient reported family history of “blood disease” and leukemia. He was admitted for the management of neutropenic fever (102.9 °F, WBC: 940, ANC: 404, platelets: 21,000 and Hb: 9.2), and was put on broad spectrum antibiotics. A bone marrow biopsy revealed normocellular marrow with erythroid predominance and mild dyserythropoiesis. Chromosomal analysis indicated no numerical or structural chromosomal abnormalities. The fluorescence in situ hybridization report did not reveal any assay specific abnormalities. Viral marker for hepatitis and studies of autoimmune antibodies showed negative results. CT scan had shown splenomegaly. Patient was discharged after he has been fever and symptoms free, with a follow-up at hematology clinic. Individuals with DC most commonly present with skin pigmentation, dystrophic nails and leukoplakia, as presented in this case. Genetic abnormality was not confirmed in our patient, but it is suggested that X-linked recessive pattern would be significant because of greater prevalence in men than in women (10:1). The distribution of blood counts and bone marrow biopsy categorizes our patient in the moderate aplastic anemia class which is the most prevalent pattern. When fever in young patients with a failing bone marrow is diagnosed, it is important that physicians rule out the possible underlying causes. DC is a rare disease, but can be diagnosed by simple inspection of the mucocutaneous abnormalities. DC is a severe multisystem disorder associated with premature morbidity and mortality. We believe that reporting this case would add more information to the existing fund of knowledge.

Echinococcosis is an infectious disease that can remain dormant for years. The most common sites of infection are liver and lungs. Primary cerebral disease is very rare. Here we report on an unusual case of echinococcosis, where the only identifiable lesion was a slowly growing intracranial hydatid cyst. No lesions on the liver identified. The patient is a United States immigrant from rural South India with a chief complaint of progressive weakness and aphasia. Further analysis revealed an interesting association between the clinical, anatomical and hematological findings over time. We conclude that hydatid cyst disease should be considered in patients from endemic areas with long-standing neurological symptoms.

Valproic acid (VPA) has successfully been used in the therapy of a number of conditions including absence seizures, partial seizures, tonic-clonic seizures, bipolar disorder, schizoaffective disorder, social phobias, neuropathic pain and migraine headaches. There is a high rise in number of cases of toxicity due to overdose of VPA. Hyperammonemia, a common side-effect of VPA, is caused by several proposed etiologies, reported as having uncertain correlation with VPA dose or concentration. We present here a case of a 25-year-old female patient with a past history of psychiatric complaints, presented with elevated serum VPA levels associated with elevated venous ammonia levels subsequent to VPA overdose. Later in the presence of sub-therapeutic serum VPA levels her venous ammonia levels remained raised and slowly down-trending. VPA levels and ammonia levels were found to be normal after 14 days. Patient was treated with levocarnitine. Her liver enzymes were never elevated. Different decay kinetics of venous ammonia in presence of high and low concentrations of VPA indicates that VPA can cause symptomatic hyperammonemia via more than one concurrent etiological mechanism. In this patient, the mechanisms causing hyperammonia secondary to VPA use were not related to hepatic damage or carnitine deficiency.

Human herpesvirus 6 (HHV-6) is a double-stranded DNA virus part of the Herpesviridae family that colonizes nearly 100% of the human population. The virus is known to be the etiologic agent of roseola infantum, a self-limited disease in childhood and reactivation of the virus later in life is linked to potentially severe manifestations, including encephalitis, in immunosuppressed patients. It is rare in immunocompetent patients, but there have been several reports of encephalitis due to HHV-6 reactivation. We describe here a case of altered mental status and multi-organ failure in an immunocompetent woman, whose cerebrospinal fluid (CSF) was positive for HHV-6 DNA by polymerase chain reaction (PCR).

Cerebrovascular diseases appear to be one of the most serious complications of coronavirus disease 2019 . In this report, we present a case of a 38-year-old male with a past medical history significant only for hypertension, who presented to the emergency department (ED) with confusion and multiple focal neurologic deficits. Brain imaging showed acute multiple cerebral watershed infarctions. Upon further investigation and laboratory workup, the hypercoagulability and vasculitis panels were found to be negative, and other differential diagnoses were ruled out. In light of a number of emerging reports of COVID-19related ischemic stroke, our patient was also screened for the disease, and surprisingly the test came back positive. We believe this case report will highlight the importance of conducting neurological examinations in COVID-19 patients, since timely workup and prompt interventions may reduce morbidity and mortality.