Parvovirus Infection and Thrombotic Thrombocytopenic Purpura in an Adult Patient With Sickle Cell Beta-Thalassemia.

Parvovirus infection and thrombotic thrombocytopenic purpura (TTP) are rare manifestations in adults with sickle cell beta-thalassemia. Due to the lack of a clear demarcation between the complications related to sickle cell disease (SCD) and TTP, the diagnosis is often challenging. The treatment requirements for both these entities are divergent and complicated, thus necessitating a careful plan of action during atypical presentations. Here we present a case of a 22-year-old woman during the peripartum period with fever, generalized body aches, and large joint pains that soon evolved into labor. The patient's history was suggestive of an undiagnosed and inherited blood disorder. The presentation of aplastic crisis-splenic sequestration during early adulthood is atypical for the SCD course in general populations. Moreover, as the patient's clinical status deteriorated with blood transfusion, the diagnosis and management of a sickle cell crisis event and TTP added to the dilemma in the presence of non-classic parvovirus infection. Though the causation of TTP due to SCD-parvovirus infection is questionable, the treatment of the baseline sickle cell crisis with the novel supportive measures resolved the underlying complications in our patient, suggesting the causal effect. As a result of this, we emphasize the importance of being vigilant about such atypical presentations to avoid delays in diagnosis and treatment of such life-threatening emergencies like TTP.

Joubert Syndrome: A Molar Tooth Sign in Disguise.

Joubert syndrome (JS) is a rare genetic ciliopathy characterized by the aplasia or malformation of the midbrain and or hindbrain structures. It usually manifests during the early stages with nonspecific neurological symptoms that progress to involve multiple systems. Its presentation similarity to other neurological disorders makes the diagnosis difficult, hence causing a delay in treatment and worse prognosis due to complications. If undiagnosed during childhood, it often presents during adolescence with the most common complication of acute kidney injury due to nephronophthisis. Here, we present a case of JS in late adolescence with renal complications and other neurological abnormalities. We aim to emphasize the importance of its early diagnosis by physicians in childhood to prevent further complications. It also highlights the possible diagnostic value and significance of brain imaging in the early stages when only mild mental retardation signs may be the only clues.