The Complexity of Early Diagnosis of Congenital Ataxia: A Case Report.

Ataxia-telangiectasia (AT) is a rare form of phakomatoses with multisystem lesions that are characterized by a specific neuro-cutaneous syndrome. AT is a multisystem disease that includes progressive clinical manifestations of cerebral ataxia, oculocutaneous telangiectasia, and increased susceptibility to cancer due to ionizing radiation sensitivity. Lack of awareness of this disease by medical providers could ultimately lead to a delay in diagnosis and increase morbidity in patients. This case study presents the history of a female adolescent patient, who was eventually placed in protective custody with congenital AT. She was clinically observed for fifteen years. This paper demonstrates the complexity of early diagnosis of AT in children. The importance of a comprehensive evaluation of neural and immunological systems, timely genetic testing, and aggressive treatment of infectious diseases is paramount in the formulation of an appropriate treatment plan. Early diagnosis and management significantly improve the prognosis and quality of life for these patients.

A Rare Case of a Severe Course of Systemic Onset of Juvenile Idiopathic Arthritis Associated with MEFV Gene Mutations in a 12-year-old Girl

Juvenile idiopathic arthritis (JIA) is a common rheumatic disease in children and adolescents. MEFV (Mediterranean fever, FMF) gene mutations are observed in systemic-onset JIA, that in addition to increasing the risk of JIA development, worsen the disease prognosis. We reported a rare case of a severe systemic-onset JIA associated with MEFV gene mutations in a 12-year-old girl. The patient had an aggressive disease course and resistance to conventional immunosuppressive agents. This case confirms the difficulties of diagnostic and treatment of systemic JIA (sJIA) associated with FMF. Currently, there are no established criteria for the definition or differential diagnosis of arthritis associated with FMF. The severe prognosis of JIA associated with FMF should motivate clinicians to initiate aggressive therapy early.

An Unusual Case of Foreign Body Aspiration in 6-year-old Boy

Foreign body aspiration (FBA) is a common cause of mortality and morbidity in children. FBA is not always immediately diagnosed, partly because this diagnosis is not frequently in mind, but also because FBA does not have a specific clinical manifestation. FBA can be misdiagnosed as asthma, upper respiratory tract infection, pneumonia, or croup. Sometimes, FBA can be completely asymptomatic. We present the case with a delay in diagnosing FBA and discuss the appropriate management of suspected foreign body aspiration in a 6-year-old boy. This case illustrates the need for prompt action and a high level of suspicion in patients with prolonged symptoms and no resolution with standard treatment. Diagnosis should always be based on a combination of data obtained from the clinical history, physical examination, and radiographic findings. However, the normal appearance of a chest X-ray does not exclude the possibility of FBA.

Discovering Rheumatoid Arthritis During Pregnancy

Rheumatoid arthritis is an autoimmune mechanism disease that preferentially affects women. Remission from rheumatoid arthritis has often been associated with pregnancy. A 29-year-old woman presented with symmetrical inflammatory polyarthralgias of the large and small joints with morning stiffness estimated at 5 hours, and the Visual Analogue Scale at 80/100 associated with the joint swelling onset 12th week of amenorrhea. She has no medical history, third pregnancy, and no fetal loss has been reported. The physical examination of the day objectified five painful joints and two swollen joints. Disease activity was moderate. There was a biological inflammatory syndrome with a C-Reactive Protein (CRP) at 37.9 mg. Rheumatoid factor was positive at 214 IU (Standard <14 IU), anti-citrullinated peptides antibodies at 99.6 IU (Standard <17 IU). The pregnancy revealed rheumatoid arthritis positive to rheumatoid factor and citrullinated cyclic anti-peptide antibodies.

An Adolescent Girl with Tubulointerstitial Nephritis and Uveitis (TINU) Syndrome

Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare and poorly understood condition that is likely underdiagnosed. The possibility that uveitis and acute tubulointerstitial nephritis do not occur simultaneously may make diagnosis more difficult. Treatment consists of systemic corticosteroids and potentially non-steroid immunosuppressants. Renal disease usually resolves spontaneously or with appropriate treatment, however, ocular manifestations may be chronic or relapsing. We report a case of tubulointerstitial nephritis and uveitis syndrome in a 12-year-old female.

Late-Onset Psychiatric Manifestations Revealing Limbic Encephalitis: a Case Report of a 48 Years Old Man

Psychiatric symptoms of late-onset are often atypical and an organic origin that remains to be eliminated at first. Still, many somatic etiologies like encephalitis remains poorly understood and multidisciplinary management is necessary. We present the case of a man hospitalized for the first time in the psychiatric ward of Monastir Tunisia at the age of 48 for behavioral disorders with atypical symptoms, Brain Magnetic resonance imaging showed bilateral signal abnormalities of the internal temporal region and hippocampal left lesions, suggestive of encephalitis. The autoimmune origin has been strongly suspected and the determination of "onco-neuronal" antibodies and specifically the assay of anti Ma1 and anti Ma2 antibodies were positive. These elements lead us to evoke autoimmune encephalitis and immunotherapy was initiated for the patient.

Letter from the Editors

Last year we successfully introduced a new journal: The Journal of Rare Diseases and Orphan Drugs (JRDOD) is a peer-reviewed open-access medical journal that publishes original research, reviews, case reports, and letters covering a broad field of its specialty. We intend to publish articles stimulating to read, educate, and inform readers with the most up-to-date research in genetics, rare diseases, and new orphan drug development in different stages of clinical trials. Journal topics are centered on patients living with undiagnosed rare diseases, the importance of a diagnosis, individual approaches to treatments. We hope that this journal will increase awareness of many difficult to diagnosed and treat medical conditions.

A Case Report of Bullous Emphysema in an Adolescent: Congenital Malformation or Outcome of Bronchopulmonary Dysplasia?

Pulmonary emphysema belongs to the group of chronic obstructive pulmonary diseases, and inpediatric pulmonology is one of the complex diagnoses that require a careful differential diagnosis. Thearticle describes the possible causes of the formation and clinical manifestations of pulmonaryemphysema in children. We present a clinical case of bullous emphysema in a teenager. This case showsthat a detailed examination using such a modern diagnostic method as high-resolution computedtomography played a crucial role in establishing the patient's correct diagnosis. However, establishing thenature of this pathological process in the child was very difficult. Perhaps an earlier diagnosis couldprevent severe irreversible changes in a teenager's lungs would avoid developing the diffusebronchopulmonary process.

Microscopic Polyangiitis (MPO-ANCA) and Henoch-Schoenlein purpura overlap in a Child

MPO-ANCA and Henoch-Schoenlein purpura overlap are extremely rare in the pediatric population. We present a case with biopsy-proven IgA renal depositions and positive MPO in a 6-year-old child with the clinical presentation of vasculitis with cutaneous and renal involvement. The child was successfully treated with a combination of steroids and cyclophosphamide.

Refractory immune thrombocytopenia (ITP) with suspected Evans syndrome requiring quadruple therapy

Immune thrombocytopenia (ITP) is a common cause of acquired thrombocytopenia in children, second only to chemotherapy-induced thrombocytopenia.[1] Most patients respond well to first line therapies, however about there is a high rate of relapse in initially responsive patients.[2] We report a case of recurrent severe form of ITP who failed a re-trial of first line therapies and required second line treatments via a quadruple therapy of immunosuppressants. This case is not only unique due to the aggressive treatment required, but also because patient also had investigation results suggestive of autoimmune hemolytic anemia (AIHA) raising suspicion of Evans Syndrome.