Peripheral neuropathy as a very rare symptom in a patient with Niemann–Pick type C with negative enzymatic evaluation: a case report

Background Niemann–Pick is a rare metabolic disease distinguished by lysosomal storage defects. This disease is characterized by sphingomyelinase acid deficiency, causing its accumulation in various organs such as the kidneys, spleen, liver, brain, and nerves. Niemann–Pick disease is categorized into four groups: A, B, C, and D. Peripheral neuropathy is an extremely rare complication in patients with Niemann–Pick type C, which certainly leads to neurologic deterioration. Case presentation We report a case of Niemann–Pick type C disease in a 3-year-old Iranian Azeri female patient who was hospitalized twice. The first time was at 1 month of age with symptoms of splenomegaly, jaundice, and elevated liver enzymes, and the second time was at around age 2 for loss of mental and physical abilities. The patient presented with failure to thrive. According to paraclinical examinations, mildly delayed myelination along with a nonspecific periventricular hypersignal intensity was seen. Interestingly, the patient’s Niemann–Pick type C enzymatic function was evaluated twice and was negative on both occasions, while she was positive for NPC1 and NPC2 gene examinations. Conclusions In this study, despite the enzymatic study being negative, Niemann–Pick type C disease was finally confirmed, revealing the importance of mutations in Niemann–Pick type C pathogenesis. Besides, peripheral neuropathy was diagnosed in this patient as a very rare symptom of Niemann–Pick type C.

The uncommon is common: Structural similarities of symptom heterogeneity across mental disorders

The heterogeneity of symptoms among individuals diagnosed with the same mental disorder complicates the identification of biomarkers and the development of targeted treatments. Yet, the characteristics of this heterogeneity remain largely unknown. We investigated the frequency of disorder-specific symptom combinations, a marker of symptom heterogeneity, in five samples, each assessed for symptoms of a specific disorder (posttraumatic stress disorder, depression, anxiety, schizophrenia and burnout). The frequency of symptom combinations was heavily skewed in all samples, with most symptom combinations being reported only by few individuals. Moreover, the distribution of the symptom combination frequency could be approximated by a power-law and a log-normal distribution. This demonstrates similarities in the structure of symptom heterogeneity among mental disorders. Furthermore, we show that studies with sample sizes typical for research in mental health preclude many rare symptom combinations, limiting the validity of the obtained evidence by such studies for individuals with rare symptom combinations.

Oro-mandibular dystonia in pediatric moyamoya disease: Two cases report

Background: In this report, we describe rare two pediatric cases that developed oro-mandibular dystonia due to moyamoya disease. Case Description: A 7-year-old boy presented with oro-mandibular dystonia and transient weakness of the left extremities, and was diagnosed as moyamoya disease. Another 7-year-old boy developed oro-mandibular dystonia alone and was diagnosed as moyamoya disease. In both, cerebral blood flow (CBF) was markedly decreased in the involved hemispheres, including the basal ganglia and cerebral cortex. They successfully underwent combined bypass surgery and experienced no further attacks of oromandibular dystonia during follow-up periods. CBF almost normalized through surgical collaterals through direct and indirect bypass. Conclusion: When treating patients with oro-mandibular dystonia, moyamoya disease should be listed as one of the differential diseases. The underlying mechanism of oro-mandibular dystonia in moyamoya disease is still unclear, but persistent cerebral ischemia in the basal ganglia and/or parietal lobe may play a key role to induce this rare symptom.

Congenital Factor VII Deficiency Presenting With Isolated Recurrent Hematuria: A Case Report

Factor VII deficiency is a rare congenital coagulopathy disorder. In most cases, this disorder is diagnosed in childhood. Common symptoms of congenital factor VII deficiency are different and consist of cutaneous, mucosal hemorrhage, gastrointestinal bleeding, and joint bleeding. CNS hemorrhage is a fatal and severe complication of congenital factor VII deficiency. The incidence of gross hematuria is a rare symptom of factor VII deficiency. Isolated presentation of hematuria is rarer and usually is accompanied by bleeding in other sites. The patient reported here is a 6-month-old girl who was diagnosed with congenital Factor VII deficiency following episodes of isolated gross hematuria. We decided to report this case to demonstrate if there is no other organic cause in the investigation of a child with recurrent hematuria, we should also consider a coagulation factors deficiency. Since isolated hematuria is a rare symptom in the coagulation factors deficiency, the coagulation tests may be of less interest.

AUTOIMMUNE MYELOFIBROSIS ASSOCIATED WITH SYSTEMIC LUPUS ERYTHEMATOSUS: EXCEPTIONALLY RARE OR UNDERRECOGNIZED?

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease which may involve several organs or organ systems. SLE may also have hematological as well as joint, kidney, and central nervous system involvements. Hematological abnormalities such as anemia, leukopenia, thrombocytopenia, and autoimmune hemolytic anemia are the best-known and most common hematological findings detected in SLE patients which are included in the classification criteria for SLE. Autoimmune myelofibrosis (AIMF) refers to bone marrow (BM) fibrosis (myelofibrosis) that develops in an autoimmune setting. Myelofibrosis is not among the SLE classification criteria and it is also not well-known. Current reports in the literature on SLE-associated AIMF are mostly restricted to case reports or reviews of such case reports. The occurrence of BM fibrosis in SLE patients has been explored merely in few studies which concluded that myelofibrosis is a rare symptom of SLE. Herein, we propose the hypothesis that SLE-associated AIMF is not rare and, on the contrary, it can indeed be more frequent than what is known or expected.

ANOSMIA IN COVID-19 INFECTION - A CASE SERIES

Background:The aim of this study is to highlight anosmia as an important symptom to predict SARS-CoV-2 infection. The presentation of the disease commonly includes fever, cough, weakness, myalgia and breathlessness making anosmia a rare symptom. Methods:We included a total of 10 patients in the study who were between the age group of 18-70 years with the complaints of anosmia. Results:8 out of the 10 patients had come with fever and cough initially and developed anosmia later. However, 2 patients had presented to us with anosmia alone as the first symptom and then on further evaluation were found to be COVID-19 positive. The available clinical data was collected, recorded and the results were analyzed. Conclusion:Anosmia is a rare or late, but contributory symptom of the coronavirus disease. Thus, clinicians should keep in mind the diagnosis of COVID-19 while treating patients presenting with such atypical symptoms for early detection & in-time treatment of COVID 19 infection to prevent complications associated with the disease.

Sudden Bilateral Deafness in a Patient with Transient Ischemic Attack: A Case Report

Sudden-onset bilateral cortical deafness is a very rare symptom of stroke, but must be recognized as stroke, as it is a treatable condition, and the treatment is highly time dependent. We report a 53-year-old man with an acute onset of complete bilateral hearing loss that gradually improved spontaneously over 4 h. The hearing loss was explained by an infarction visualized on magnetic resonance imaging, which showed a subacute temporoparietal ischemic lesion in the left cerebral hemisphere involving the insular cortex and an older infarction in the right temporoparietal region. The location of these kinds of lesions may typically not cause motor deficits, but sensory and cognitive (e.g., aphasia) symptoms, which can be challenging to recognize in a suddenly deaf patient. Taking the possible differential diagnoses into account, immediate stroke workup should always be prioritized in patients with sudden bilateral deafness, as acute revascularizing treatment is possible.

Retenção Urinária Como Manifestação de Hematocolpos

Hematocolpos is an obstruction of the menstrual flow due to an anomaly of the genital tract, with imperforate hymen being the most common one. It is an uncommon condition, with a prevalence of 1:1000 – 1:16 000. It is usually an asymptomatic condition until the onset of menarche, when there is accumulation of blood in the vagina (hematocolpos) or in the uterus (hematometra). A rare symptom of hematocolpos could be urinary retention. Our case report is about a 12-year-old girl, with no menarche and Tanner stage M4/P5, who was admitted to our emergency department with abdominal pain and urinary retention. A brief review of this rare condition is presented, in order to remind clinicians about its existence, so that it can be diagnosed and treated as quickly as possible.