Dramatic Response Research Articles

De novo SCN1A missense variant in a patient with Parkinson’s disease

BackgroundVariants in a gene encoding sodium voltage-gated channel alpha subunit 1 (SCN1A) are known to cause a broad clinical spectrum of epilepsy and associated features, including Dravet syndrome (MIM 607208), non-Dravet developmental and epileptic encephalopathy (MIM 619317), familial febrile seizures (MIM 604403), familial hemiplegic migraine (MIM 609634), and generalized epilepsy with febrile seizures (MIM 604403).MethodsIn this study, we examined a patient with Parkinson’s disease (PD) without any clinical manifestations of epilepsy and associated features. Genomic nucleic acid was extracted, and a complete coding sequence of the human genome (whole-exome sequencing) was sequenced. Moreover, Sanger sequencing of variants of interest was performed to validate the exome-discovered variants.ResultsWe identified a heterozygous pathogenic missense mutation (c.1498C>T; p.Arg500Trp) in the SCN1A gene in the patient using the whole-exome sequencing approach. The onset of PD features in our patient occurred at the age of 30 years. Biochemical investigations were carried out to rule out any secondary cause of the disease, including Wilson's disease or another metabolic disorder. MRI of the brain and spinal images were unremarkable. Moreover, a dramatic response to carbidopa–levodopa treatment was also observed in the patient.ConclusionOur results suggest that the pathogenic variant in SCN1A may lead to PD features without epilepsy.

Therapeutic vulnerabilities and pan-cancer landscape of BRAF class III mutations in epithelial solid tumors

BackgroundKinase-impaired class III BRAF mutations have recently received attention as a possible prognostic factor and therapeutic target. Class III BRAF variants differ from class I and class II mutations in terms of mechanism of pathway activation and therapeutic vulnerabilities. Genomic landscape analyses of tumors in large real-world cohorts represent a great opportunity to further characterize tumor-related molecular events and treatment vulnerabilities, however, such data is not yet available for tumors with BRAF class III mutations.MethodsWe investigated the pan-cancer genomic landscape of BRAF class III mutations in 376,302 patients. Patients had comprehensive genomic profiling either by FoundationOne® or FoundationOne®CDx from formalin-fixed, paraffin embedded tissue biopsies. 2 patient cases that harbored BRAF class III mutations who demonstrated dramatic response to anti-EGFR treatment were presented.ResultsBRAF class III mutations are likely to co-occur with RAF1, NRAS and HRAS alterations, while concomitant KRAS alterations were rare. Moreover, we found that alterations that predict resistance to anti-EGFR agents were significantly less common in tumors harboring BRAF class III mutations, which is of great importance as anti-EGFR therapies are a potential targeted treatment option in these tumors.DiscussionOur findings suggest a heterogenous interplay of oncogenic alterations in BRAF class III mutated tumors and have important implications for the molecular mechanisms of carcinogenesis while revealing potential therapeutic vulnerabilities.HighlightsTumors harboring BRAF class III (BRAF vIII) mutations comprise a novel subset with distinct genomic heterogeneity.BRAF vIII mutations may sensitize tumors to anti-EGFR treatments.BRAF vIII alterations show significantly less co-occurrence with alterations that predict resistance to anti-EGFR agents.Rare tumors with limited therapy options should be screened for BRAF vIII mutations as they may benefit from anti-EGFR agents.

Post-functionalization of Fluorinated Dibenzosulfone-based Conjugated Polymer for Smart 'Turn-off' Sensing of Cu2+ Ions.

Post-functionalization of conjugated polymeric backbone with various N-containing heterocycles through nucleophilic aromatic substitution reaction (SNAr) demonstrates crucial tailoring of their photophysical properties. This study explores an approach of post-polymerization modification of a fluorinated dibenzosulfone-based conjugated polymer aiming to incorporate functional groups having coordinating sites to bind metal ions. The resulting polymers, namely BDT-DBTS-IM, BDT-DBTS-TR, and BDT-DBTS-PY, revealed successful substitution reactions with imidazole, triazole, and pyridine respectively, andshowed significant changes in their absorption and emission properties. Notably, BDT-DBTS-IM demonstrated exceptional performance as a chemosensor, exhibiting a dramatic fluorescence turn-off response specifically to copper ions (Cu2+) with the limit of detection of 26 nM and Stern-Volmer quenching constant (KSV) of 8.2×105 Lmol-1. This high selectivity and sensitivity are attributed to the ability of the imidazole group to form a stable complex with Cu2+, resulting in both static and dynamic quenching efficiently. Our findings underscore the potential of post-polymerization modifications to significantly enhance the functionality of conjugated polymers. The ability of BDT-DBTS-IM to detect trace levels of copper ions with high precision highlights its practical utility in environmental and biological monitoring. This research not only demonstrates an approach for post-polymeric modification through SNAr reaction but also opens new avenues for developing sensors.

6850 A Case of Anaplastic Thyroid Carcinoma With a Complete Metabolic Response to Pembrolizumab

Abstract Disclosure: E. Tirthani: None. J.T. Kung: None. Background: Anaplastic thyroid carcinoma (ATC) is an aggressive disease with limited therapeutic options and generally poor prognosis. Post-surgery, most patients are treated with a combination of chemotherapy, radiation, and tyrosine kinase inhibitors +/- immune checkpoint inhibitors. We describe a unique case of ATC with a complete metabolic response to pembrolizumab, a selective PD-1 inhibitor, as evidenced by imaging. Clinical Case: A 69-year-old female presented to the clinic for evaluation of a rapidly enlarging neck mass. The initial ultrasound showed a large mixed cystic-solid right thyroid nodule with irregular margins with micro- and macrocalcifications, which was biopsied. Cytology showed discohesive high-grade malignant tumor cells with enlarged nuclei, nuclear hyperchromasia in the background of necrosis, and dense neutrophilic infiltration concerning for ATC. A CT scan of the neck and chest showed a complex cystic thyroid mass with central necrosis and calcification with paratracheal, supraclavicular, and mediastinal lymphadenopathy. MRI of the brain was negative for metastatic disease. The patient underwent a total thyroidectomy with right and left level 6 and 7 neck dissection. Intra-operatively, gross extrathyroidal extension of the tumor was noted to the right carotid, larynx, right recurrent laryngeal nerve, and esophagus, with residual tumor left behind near the larynx. Pathology confirmed stage IVC ATC, positive for PIK3CA, NF1, p53 mutations, and BRAF negative. 90% of tumor cells showed PD-L1 expression on immunohistochemical staining. The post-surgical PET scan showed two discrete, well-defined foci of very intense FDG uptake, corresponding to the right lower cervical and para-esophageal lymph nodes with no evidence of distant metastasis. Systemic chemotherapy with carboplatin and paclitaxel (5 cycles) was initiated with concurrent intensity modulated radiation therapy (total 60 Gy/40 fractions to thyroid bed and bilateral neck). Repeat imaging showed minimal change in the size of the PET-positive lymph nodes. Immunotherapy was initiated and with just 2 cycles of 400 mg IV pembrolizumab, a repeat PET scan was obtained, which showed a complete metabolic response to therapy. Minimal residual FDG activity in the right supraclavicular region was thought to be secondary to posttreatment changes. The patient was able to resume her activities of daily living and had an improvement in appetite. The plan is to continue 400 mg IV pembrolizumab every 6 weeks while cautiously assessing for adverse effects from immunotherapy. Conclusion: It is rare to see a complete metabolic response to therapy with pembrolizumab without concurrent use of tyrosine kinase inhibitors in patients with ATC. A high tumoral PD-L1 expression may be the key to having this kind of dramatic response. Presentation: 6/3/2024

7183 Histoplasmosis Of Adrenal In An Immunocompetent Patient From Arizona: A Surprising Biopsy

Abstract Disclosure: R. Habibi: None. S. Penquite: None. N. Ebrahimi: None. R. Cardenas Lara: None. Introduction: Histoplasmosis of adrenal gland in the context of disseminated infection is a rare entity in a non-endemic area. Early diagnosis and treatment can save one’s life. Here we present a case of a patient from Arizona who was referred to us with a large adrenal mass initially resembling malignancy. Presentation: A 58-year-old male with no significant medical history from Bisbee Arizona presented to our clinic with significant weight loss of 120 pounds in 8months, jaundice, fatigue, nausea and vague abdominal pain. He had an abdominal CT scan in a rural area hospital which showed a left adrenal 4.2 x 4.3 x 3.7 cm mass with average HU=40, with interval development from a CT scan 6months prior to that which showed left adrenal 1.5 x 1.3 x 1.3 cm mass. He had the initial CT scan after a mechanical fall. He was experiencing sweating, dizziness and low blood pressure of 90/60 mmhg, but used to have hypertension. Physical examination revealed diffuse jaundice in an ill appearing cachectic individual. Laboratory data were significant for total bilirubin of 4.9, direct bilirubin 0.7. Plasma metanephrines and normetanephrines, 24-hour urine free cortisol, morning cortisol levels and DHEA sulfate were normal. Other findings on the CT scans of head, chest and abdomen were soft tissue thickening between the right posterior 10th and 11th ribs along with hepatosplenomegaly, nodular lung lesions with calcified granuloma, sub centimeter brain lesions within the left putamen/external capsule junction with corresponding mild edema. During the following month after initial visit he developed bilateral tongue masses with dysphagia along with enlarging bilateral adrenal lesions, measuring up to 4.4 cm on the right and 5.2 cm on the left. The patient was admitted to hospital for further extensive work up. He underwent biopsies of left adrenal mass and tongue lesions which demonstrated necrotizing granulomatous inflammation with fungal elements compatible with histoplasmosis. Liposomal amphotericin B was started, which was quickly switched to itraconazole 200mg twice a day once lumbar puncture result was normal. His transient low blood pressures resolved. He was seen in clinic after few weeks with overall improving symptoms. Follow up with imaging of adrenal in few months is planned. He is currently in his third month of treatment for histoplasmosis with itraconazole. Discussion: The presentation of disseminated histoplasmosis can resemble malignancy as illustrated in this case. Southwest of the United States is an unusual geographical area for such infection. Initial unilateral involvement of adrenal as a mass in an immunocompetent individual is also uncommon. Considering dramatic response to antifungal treatment, a clinician should suspect such rare infections when seeing a nonfunctional adrenal mass with rapidly progressive constitutional symptoms. Presentation: 6/3/2024

Co-infection of cytomegalovirus and Leishmania without splenomegaly resulting in immunosuppression in an HIV-negative patient

Background: Leishmaniasis is caused by the parasite Leishmania donovani and transmitted by the bite of the sand fly vector Phlebotomus. This disease is endemic in the Bihar region of India. There are three common forms of the disease – cutaneous, mucosal and visceral leishmaniasis. The most common presentation of this disease is prolonged unexplained fever with hepatosplenomegaly. Case description: We report an unusual case of pyrexia of unknown origin (PUO) in a patient who was extensively worked up for PUO. She was found to have low CD4 counts even though serial samples were negative for HIV. Workup for PUO revealed a positive result for cytomegalovirus (CMV) IgM and polymerase chain reaction (PCR), fundoscopy suggestive of CMV retinitis and bone marrow biopsy suggestive of visceral leishmaniasis. Interestingly, there was no evidence of hepatosplenomegaly. She was diagnosed as a case of CMV infection and visceral leishmaniasis resulting in immunosuppression and was managed with parenteral ganciclovir followed by oral valganciclovir and amphotericin respectively. She had a dramatic response to the treatment and was discharged after two months of in hospital management. Conclusion: Co-infection of CMV and Leishmania in an immunocompromised patient with HIV-negative status without hepatosplenomegaly posed a diagnostic dilemma and is a rare presentation. This report shows the importance of diagnosis of this co-infectious state, which upon management with ganciclovir and amphotericin lead to resolution of symptoms and pancytopenia. Clinicians should be aware of the unusual presentation to avoid missing the diagnosis of this potentially life-threatening treatable condition.

Bi-weekly irinotecan is an effective and convenient regimen in the treatment of relapsed or refractory small cell lung cancer

BackgroundDespite initial dramatic responses, metastatic small cell lung cancer (SCLC) invariably recurs. Irinotecan is one of the active agents for patients with recurrent SCLC. In the second line, weekly or three-weekly irinotecan regimens have been adopted, however, the optimal dose and schedule is not defined. In our institution, we use a bi-weekly regimen of irinotecan. In this study, we aimed to investigate the safety and efficacy of the bi-weekly irinotecan in the second- or third-line treatment of SCLC patients.MethodsThe study population consisted of advanced stage SCLC patients who were followed at Hacettepe University Cancer Institute between January 2007 and March 2021 and received salvage irinotecan 180 mg/m2 every two weeks, following progression after platinum-etoposide treatment.ResultsOne hundred patients were included. At diagnosis, nineteen patients (19%) had limited stage and 81 patients (81%) had extensive stage SCLC. Objective response rates (ORR) were 44.6% and 46.2% for patients who received irinotecan treatment in second line, and in third line, respectively. Seventeen percent of all the patients had grade 3 and above adverse events during irinotecan treatment. In our study, 45.8% of patients were able to complete at least 6 cycles of irinotecan treatment and 69.8% were able to receive at least 3 cycles of irinotecan treatment without any dose interruption or reduction.ConclusionsIrinotecan 180 mg/m2 every two weeks appears to be safe and effective in the 2nd- and 3rd-line treatment of advanced stage SCLC. Bi-weekly administration allows G-CSF prophylaxis in between doses, leading to an uninterrupted administration.

The effect of interstimulus interval on sustained attention

The ability of nervous systems to filter out irrelevant and repetitive stimuli may prevent animals from becoming ‘saturated’ with excess information. However, animals must be particular about which stimuli to attend to and which to ignore, as mistakes may be costly. Using a comparative approach, we explored the effect of interstimulus interval (ISI) between repeated presentations of visual stimuli presented on a screen to test the decrease in responses (response decrement) of both Trite planiceps jumping spiders and untrained Columba livia pigeons, animals with comparable visual ability despite having structurally different visual systems and brain size. We used ISIs of 2.5 s, 5 s, 10 s, predicting that decreases in ISI would lead to progressively less responses to the stimuli. Following from previous work on T. planiceps, we also manipulated pigeon hunger level, finding that hungry birds were initially more responsive than sated pigeons, but the rate of decrease in responses to the stimulus did not differ between the two groups. While a clear response decrement was seen in both species across all conditions, shorter ISIs resulted in more dramatic response decrements, aligning with previous work and with the resource depletion theory posited in the human-based literature.

Disseminated Juvenile Xanthogranuloma Harboring a GAB2::BRAF fusion Successfully Treated with Trametinib: a Case Report.

We present an interesting case of disseminated juvenile xanthogranuloma harbouring a GAB2::BRAF fusion that exhibited dramatic response to trametinib, highlighting the utility of RNA sequencing and targeted next-generation sequencing in non-Langerhans cell histiocytosis in identifying potential therapeutic targets.

Manifestation of ocular tuberculosis in a north Indian tertiary care centre: Case series

Ocular tuberculosis acts as a challenge throughout the world, and its pathophysiology, diagnosis, and treatment are a topic for debate. The present case series represents retrospective study focusing on the variable clinical presentations, the diagnostic and therapeutic characteristics of ocular tuberculosis. We report 12 patients of ocular tuberculosis with variable presentations. : Retrospective analysis of records of patients diagnosed with ocular tuberculosis from August 2022 till March 2023 was done. Diagnosis of ocular tuberculosis was based on detailed ocular and systemic examination including best corrected visual acuity (BCVA), Slit lamp examination, fundus examination, OCT. The patients presenting with features suggestive of ocular tuberculosis were further investigated with complete blood count (CBC), erythrocyte sedimentation rate (ESR), Monteaux test, Chest X-ray, Cartridge Based Nuclear Amplification Test (CBNAAT) and rheumatological work up. Out of 12 of ocular tuberculosis patients, 4 were diagnosed with active retinal vasculitis, 3with choroiditis, 3 had panuveitis, and remaining 2 patients had unilateral nodular episcleritis. The diagnosis was based on compatible clinical picture, highly positive Tuberculin skin test and dramatic response to anti-tuberculous drugs. All 12 cases were strongly Mantaux test positive (2 developed injection site ulceration). All cases were started on ATT immediately with pulmonologist consultation and showed clinical improvement after 1 month. Ocular tuberculosis can have myriad presentations. Positive Mantaux test plays an important role in supporting diagnosis of ocular tuberculosis.

Immune Checkpoint Inhibitor Therapy for Periocular Merkel Cell Carcinoma

We herein report four patients with periocular Merkel cell carcinoma treated with immune checkpoint inhibitors who experienced a dramatic response and, therefore, had less morbid surgery and/or avoided radiation therapy with its inherent ocular toxicity.

A 32-year old lady who developed a complex generalized movement disorder in all four limbs after plasma exchange for myelitis

A 32-year old lady with AQP4-Antibody positive neuromyelitis optica developed a new-onset complex movement disorder after therapeutic plasma exchange, which was initially suspected to be hypocalcemic carpo-pedal spasm. However, when her bilateral, distal predominant, paroxysmal, stereotypic, wrist and finger flexor tonic contractions did not respond to serum calcium correction, other diagnoses were considered. The patient had a dramatic response to oral carbamazepine suggesting that the tonic spasms were likely a spinal movement disorder due to the primary demyelinating pathology.

Bilateral cystoid macular edema as the presenting feature of chronic myeloid leukemia.

Ophthalmic disease may rarely be a presenting feature of chronic myeloid leukemia (CML). We report a case of a 53-year-old man with type 1 diabetes mellitus who presented with a rapid onset of bilateral blurred vision. He was noted to have bilateral macular edema and was initially treated for presumed diabetic macular edema (DME) with intravitreal alifbercept injections. One month later, there was complete resolution of his macular edema. Review of his history and imaging revealed features atypical for DME, specifically; the rapid onset of bilateral blurred vision over 2-3 weeks, numerous cotton wool spots within the macula, the absence of any exudates, the symmetrical macular edema with a "vaulted ceiling" appearance (more typical of cystoid macular edema) and the dramatic response to a single intravitreal aflibercept injection. One week after his intravitreal injection, the patient was diagnosed with CML following marked leucocytosis on a routine blood test by his general practitioner. Although uncommon, sudden onset bilateral edema in the absence of other chronic diabetic changes should prompt consideration of an underlying haematological cause. This case highlights the importance of considering CML as a differential diagnosis in patients presenting with sudden onset, bilateral cystoid macular oedema. Vigilance is especially important in patients with co-existing diabetic retinopathy as the clinical features of leukemic retinopathy can overlap. Furthermore, the diagnosis of CML in a patient with diabetes mellitus should prompt extra observation for accelerated worsening of diabetic retinopathy.

The Role of Chimeric Antigen Receptor T-Cell Therapy in Immune-Mediated Neurological Diseases.

Despite the use of 'high efficacy' disease-modifying therapies, disease activity and clinical progression of different immune-mediated neurological diseases continue for some patients, resulting in accumulating disability, deteriorating social and mental health, and high economic cost to patients and society. Although autologous hematopoietic stem cell transplant is an effective treatment modality, it is an intensive chemotherapy-based therapy with a range of short- and long-term side-effects. Chimeric antigen receptor T-cell therapy (CAR-T) has revolutionized the treatment of B-cell and other hematological malignancies, conferring long-term remission for otherwise refractory diseases. However, the toxicity of this treatment, particularly cytokine release syndrome and immune effector cell-associated neurotoxicity syndrome, and the complexity of production necessitate the need for a high level of specialization at treating centers. Early-phase trials of CAR-T therapies in immune-mediated B cell driven conditions, such as systemic lupus erythematosus, neuromyelitis optica spectrum disorder and myasthenia gravis, have shown dramatic clinical response with few adverse events. Based on the common physiopathology, CAR-T therapy in other immune-mediated neurological disease, including multiple sclerosis, chronic inflammatory polyradiculopathy, autoimmune encephalitis, and stiff person syndrome, might be an effective option for patients, avoiding the need for long-term immunosuppressant medications. It may prove to be a more selective immunoablative approach than autologous hematopoietic stem cell transplant, with potentially increased efficacy and lower adverse events. In this review, we present the state of the art and future directions of the use of CAR-T in such conditions. ANN NEUROL 2024;96:441-452.

Late-onset myopathies.

Late-onset myopathies are defined as muscle diseases that begin after the age of 50 years. Some myopathies present classically in the elderly, whereas others may have a variable age of onset, including late-onset presentation. The purpose of this review is to summarize and comment on the most recent evidence regarding the main diagnosis of late-onset myopathies focusing on genetic causes. Although late-onset myopathies (LOM) are expected to be predominantly acquired myopathies, some common genetic myopathies, such as facioscapulohumeral muscular dystrophy (FSHD), can present late in life, usually with an atypical presentation. In addition, metabolic myopathies, which are classically early-onset diseases, are also diagnoses to be considered, particularly as they may be treatable. Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) has recently been identified as a cause of subacute LOM with a dramatic response to riboflavin supplementation. Inclusion body myositis is the most frequent of all LOM. Myotonic dystrophy type 2, FSHD and oculopharyngeal muscular dystrophy are the most frequent causes of genetic LOM. We summarize the major differential diagnoses and the clinical features on clinical examination that are suggestive of a genetic diagnosis to provide a diagnostic approach.

Study of Clinical and Haematological Profile of Vitamin b12 Deficiency and to Check Response to Vitamin b12 Therapy

Objectives: Vitamin B 12 (cobalamin) deficiency has been a known clinical entity for long time. Average Indian diet is deficient in vitamin B12. Deficiency of vitamin is associated with a wide spectrum of haematologic and neuropsychiatric disorders that can often be reversed by early diagnosis and prompt treatment. Diagnosis is easy and treatment ids cheap. Hence, we conducted this study to find patterns of presentation in patients with vitamin B12 deficiency with haematological profile and to check response to therapy. Material and Methods: A longitudinal study was conducted between September 2016 and November 2018 in the Department of Medicine at Government Medical College, Nagpur, India. One hundred patients whose serum vitamin B12 level was <250 pg/mL were included in the study. Results: Mean vitamin B12 level in patients was 162.64 ± 43.31 pg/mL. Most of patients were male and deficiency was common among vegetarians. History of alcoholism was present in 41% of patients. The most common complaint was fatigue present in 87% of patients. Most common neuropsychiatric complaint was tingling and numbness (14%). Most common sign elicited was pallor in 96% of patients while icterus and knuckle hyperpigmentation was present in 57% and 74% of patients, respectively. Mean haemoglobin (Hb) among cases was 6.09 ± 2.21 g/dL. After treatment, all the patients showed a dramatic response in Hb level, mean corpuscular volume, red cell distribution width and mean platelet volume. Conclusion: Deficiency of vitamin B12 is associated with plethora of clinical manifestations. Males, alcoholics and vegetarians are at risk. Early treatment halts late complications.

Dramatic response to crizotinib through MET phosphorylation inhibition in rare TFG-MET fusion advanced squamous cell lung cancer.

With the widespread use of next-generation sequencing (NGS) for solid tumors, mesenchymal-to-epithelial transition factor (MET) rearrangement/fusion has been confirmed in multiple cancer types. MET amplification and MET exon 14 skipping mutations induce protein autophosphorylation; however, the pathogenic mechanism and drug sensitivity of MET fusion remain unclear. The following report describes the clinical case of a patient diagnosed with squamous lung cancer bearing a TFG-MET gene fusion. In vitro assays demonstrated MET phosphorylation and oncogenic capacity due to the TFG-MET rearrangement, both of which were inhibited by crizotinib treatment. The patient was treated with crizotinib, which resulted in sustained partial remission for more than 17 months. Collectively, cellular analyses and our case report emphasize the potential of MET fusion as a predictive biomarker for personalized target therapy for solid tumors.

SCN8A Encephalopathy with a Significant Long-Term Response to Lacosamide

AbstractDevelopmental and epileptic encephalopathy associated with SCN8A variants (i.e., SCN8A encephalopathy) causes early-onset epilepsy, involuntary movements, hypotonia, and developmental delay. Sodium channel blockers are effective for treating SCN8A encephalopathy; however, the long-term effects are unknown. Herein, we report the long-term efficacy of lacosamide (LCM) treatment in a patient with SCN8A encephalopathy. Our patient, a 7-year-old girl, presented with a hyperekplexia-like excessive startle response, drug-resistant epilepsy with sinus arrest, and prolonged respiratory failure during the neonatal period. The patient was diagnosed with SCN8A encephalopathy caused by a de novo pathogenic variant of SCN8A: c.3979A > G; p.Ile1327Val. The patient experienced tonic clustered seizures daily, with dramatic responses to high doses of LCM, lasting approximately 3 years.

A term infant with severe hypereosinophilia secondary to CMV infection and the STAT1 gene mutation: a case report

Hypereosinophilia is a rare presentation in all age groups, particularly when it is severe, persistent, and progressive. We describe the clinical characteristics and course of severe hypereosinophilia in a full-term Saudi female neonate. A febrile respiratory illness evolved with a progressive increase in peripheral blood leukocyte and eosinophil counts, reaching 44.9% of leukocytes and an absolute value of 57,000 cells/µl. Different etiological examinations (for viral, bacterial, immunodeficiency, hyper IgE syndrome, gene mutations) revealed extremely high CMV antigenemia and a homozygous mutation in the STAT1 gene. Anhelation was relieved by oxygen and anti-viral treatment. Steroids brought a dramatic response in peripheral blood counts within 24 h. After a 6-week course of antiviral and steroid treatment at home, she had an excellent general condition. Conclusion: Although a rare pathology, it is important to consider genetic disorders when there is an atypical immune response to viral infections.

A report on neglected case of systemic lupus erythematosus presenting by Degos’ skin disease and diffuse non-scarring alopecia with dramatic response to treatment

A report on neglected case of systemic lupus erythematosus presenting by Degos’ skin disease and diffuse non-scarring alopecia with dramatic response to treatment