Tofacitinib effectiveness in Blau syndrome: a case series of Chinese paediatric patients

Objective Blau syndrome (BS), a rare, autosomal-dominant autoinflammatory syndrome, is characterized by a clinical triad of granulomatous recurrent uveitis, dermatitis, and symmetric arthritis and associated with mutations of the nucleotide-binding oligomerization domain containing 2 (NOD2) gene. Aim of this study was to assess the efficacy of tofacitinib in Chinese paediatric patients with BS. Methods Tofacitinib was regularly administered to three BS patients (Patient 1, Patient 2, and Patient 3) at different dosages: 1.7 mg/day (0.11 mg/kg), 2.5 mg/day (0.12 mg/kg), and 2.5 mg/day (0.33 mg/kg). The clinical manifestations of the patients, magnetic resonance imaging results, serological diagnoses, therapeutic measures and outcomes of treatments are described in this report. Results The clinical characteristics and serological diagnoses of all BS patients were greatly improved after the administration of tofacitinib treatment. All patients reached clinical remission of polyarthritis and improvements in the erythrocyte sedimentation rate (ESR) and levels of C-reactive protein (CRP) and inflammatory cytokines. Conclusion Tofacitinib, a Janus kinase (JAK) inhibitor, is a promising agent for BS patients who have unsatisfactory responses to corticosteroids, traditional disease-modifying antirheumatic drugs, and biological agents.

Manifestation of Susac syndrome during interferon beta-1a and glatiramer acetate treatment for misdiagnosed multiple sclerosis: a case report

Background Susac syndrome (SS) is characterized by the triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. However, the diagnosis of SS remains difficult because the clinical triad rarely occurs at disease onset, and symptom severity varies. SS symptoms often suggest other diseases, in particular multiple sclerosis (MS), which is more common. Misdiagnosing SS as MS may cause serious complications because MS drugs, such as interferon beta-1a, can worsen the course of SS. This case report confirms previous reports that the use of interferon beta-1a in the course of misdiagnosed MS may lead to exacerbation of SS. Moreover, our case report shows that glatiramer acetate may also exacerbate the course of SS. To the best of our knowledge, this is the first reported case of exacerbation of SS by glatiramer acetate. Case presentation We present a case report of a patient with a primary diagnosis of MS who developed symptoms of SS during interferon beta-1a treatment for MS; these symptoms were resolved after the discontinuation of the treatment. Upon initiation of glatiramer acetate treatment, the patient developed the full clinical triad of SS. The diagnosis of MS was excluded, and glatiramer acetate therapy was discontinued. The patient’s neurological state improved only after the use of a combination of corticosteroids, intravenous immunoglobulins, and azathioprine. Conclusions The coincidence of SS signs and symptoms with treatment for MS, first with interferon beta-1a and then with glatiramer acetate, suggests that these drugs may influence the course of SS. This case report indicates that treatment with glatiramer acetate may modulate or even exacerbate the course of SS.

Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis

Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the <i>SLC27A4</i> gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (<i>c</i>.<i>1</i> A&#x3e; <i>G</i>, <i>p</i>.<i>Met1Val</i>) in the <i>SLC27A4</i> gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.

Miller Fisher syndrome developed after a previous COVID-19 infection (case report)

Miller Fisher syndrome is one of the forms of Guillain–Barrе́ syndrome, characterized by a clinical triad that includes ophthalmoplegia, ataxia and areflexia, with the possible addition of moderate peripheral tetraparesis. During the year that has passed since the start of the pandemic of the new coronavirus infection COVID‑19, international publications have presented a few cases of Miller Fisher syndrome, which developed in patients at different times after the COVID‑19 infection – from 3–5 days to 3 weeks. The article presents a description of a clinical case of Miller Fisher syndrome, which occurred with 34‑year‑old man 21 days after the COVID‑19 infection. The clinical manifestations of Miller Fisher syndrome were typical and included diplopia, areflexia, and ataxia. At the beginning of the disease, there was a transient episode of speech impairment in the form of mild dysarthria. Oculomotor disorders predominated in the clinical picture over other components of the classical triad. On the background of treatment with human immunoglobulin G, there was a complete regression of symptoms.This description of Miller Fisher syndrome, which developed after the postponed infection with COVID‑19, is the first in Russia. The presented case demonstrates the ability of the SARS‑CoV‑2 virus to induce the development of an autoimmune disease. Practitioners should take into account the possibility of Miller Fisher syndrome developing in the event of an acute onset of diplopia, ataxia and areflexia in patients after a previous COVID‑19 infection.

Undiagnosed Case of Klippel-Trenaunnay Syndrome Presenting as Extensive Heterotrophic Ossification and Flexion Deformity of Right Lower Limb Requiring Amputation : A Case Report

Klippel-Trenaunnay Syndrome is a rare disease characterized by a clinical triad of capillary malformation, soft tissue and bony hypertrophy, and atypical varicosity. This syndrome ranges from asymptomatic disease to life-threatening bleeding, embolism, and deformities. Management includes early diagnosis, prevention, and treatment of complications. We present a case of a 43-year-old male presenting with pain, swelling and deformity of the right leg for 30 years. On examination, diffusely enlarged tender right limb with several dark patchy discolorations, multiple tortuous vessels were found. Right leg X-ray showed heterotrophic ossification and distortion of ankle joint. Due to chronic severe pain, recurrent infection, contracture and flexion deformity of right leg, the patient underwent above knee amputation. This case focuses on the variable presentation and multiple problems faced by patients with Klippel-Trenaununay Syndrome as they get diagnosed late and shows the importance of high index of suspicion for early diagnosis and prevention of complications.

DRESS Syndrome Associated with Carbamazepine: A Case Report

DRESS Syndrome is a severe toxicity. Considered a rare, serious and multi-organ reaction, frequently associated with antiepileptic drugs (phenytoin, carbamazepine, lamotrigine). The objective of this article is to describe the clinical characteristics, complementary tests, their diagnosis, evolution and treatment. We present a 31‐year‐old patient who is admitted to the Clinic Service of the SOLCA Hospital in Riobamba with a history of sporadic seizures with no apparent cause treated with carbamazepine and lamotrigine. DRESS syndrome presents a clinical triad of fever, rash, and multi-organ disorder). DRESS syndrome begins late, slowly evolves and clinically similar to infectious processes, which is why it is frequently misdiagnosed. Its incidence is very low in individuals exposed to various medications. The correct diagnosis is difficult especially in professionals not trained in the skin specialty. A misdiagnosis or delay in it increases mortality by up to 30%. The fundamental basis in the treatment of DRESS syndrome is to immediately withdraw the triggering drug and use systemic corticosteroid pulses, which will undoubtedly save the patient's life. It is concluded that DRESS Syndrome can be fatal, so an early diagnosis is important. Due to its classic clinical triad of fever, rash and multi-organ involvement, there is difficulty in its diagnosis, especially when there is no evaluation by a skin specialist. However, once correctly diagnosed, it has a satisfactory evolution. Keywords: DRESS syndrome, carbamazepine, lamotrigine, rash, multiorgan involvement. RESUMEN El Síndrome de DRESS una toxicodermia grave. Considerada como una reacción rara, grave y compromete a varios órganos, asociada frecuentemente a medicamentos antiepilépticos (fenitoína, carbamazepina, lamotrigina). El objetivo de este artículo es describir las características clínicas, exámenes complementarios, su diagnóstico, evolución y tratamiento. Presentamos una paciente de 31 años que es ingresada al Servicio de Clínica del Hospital SOLCA de Riobamba con antecedentes de crisis convulsivas esporádicas sin causa aparente tratada con carbamazepina y lamotrigina. El síndrome de DRESS presenta una triada clínica de fiebre, exantema y alteración multiorgánica). El síndrome de DRESS inicia tardíamente, de evolución lenta y clínicamente similar a procesos infecciosos, por lo que frecuentemente es mal diagnosticado. Su incidencia es muy baja en individuos expuestos a diversos medicamentos. El diagnóstico acertado es difícil sobre todo en profesionales no entrenados en la especialidad de piel. Un mal diagnóstico o dilación del mismo aumenta la mortalidad de hasta un 30%. La base fundamental en el tratamiento del síndrome DRESS es retirar inmediatamente el medicamento desencadenante y usar pulsos de corticoide sistémico, salvara la vida del paciente sin duda. Se concluye que el Síndrome de DRESS puede ser mortal, por lo que es importante un diagnóstico temprano. A través de su triada clínica clásica de fiebre, exantema y afectación multiorgánica, existe dificultad en su diagnóstico sobre todo cuando no hay la valoración de un especialista en piel. Sin embargo, una vez diagnosticada correctamente, tiene una evolución satisfactoria. Palabras clave: síndrome de DRESS, carbamazepina, lamotrigina, exantema, afectación multiorgánica.

A neonate with Klippel–Trénaunay syndrome: a case report

Background Klippel–Trénaunay syndrome is a rare congenital capillary–lymphatic–venous condition characterized by the clinical triad of capillary malformations (port wine stains), varicose veins with or without venous malformations, and bony and/or soft-tissue hypertrophy. It has a very low incidence of about 1:100,000. Case presentation We report the case of 21-day-old neonate Black African female (born in Uganda) with Klippel–Trénaunay syndrome who presented with macrodactyly and ectrodactyly on the left foot, as well as numerous port wine stains on the left thoracoabdominal region and anteroposterior left lower limb. Color Doppler ultrasound examination of the left lower limb and abdomen revealed varicose veins without signs of arteriovenous fistula. Conclusion The report presents the case of a neonate with a rare congenital vascular disorder type Klippel–Trénaunay syndrome.

Clinical Diagnosis and Treatment Management of Normal Pressure Hydrocephalus

Inadequate absorption of cerebrospinal fluid (CSF) at the arachnoid granulation level during circulation results in an increase in CSF in the ventricle and certain neuropsychiatric clinical findings. This syndrome, which often presents with ventricular dilatation, progressive cognitive decline, walking difficulties, and urinary incontinence symptoms in elderly individuals, is called Normal Pressure Hydrocephalus (NPH). It is projected that as people’s quality of life improves and their life expectancy rises, more old people would develop this condition. Although a clear clinical triad has been defined, the identification of patients with NPH and the application of effective treatment modalities still pose a number of challenges for neurosurgeons today. However, despite all these difficulties, if diagnosed and treated early, the unusual appearance of these symptoms affecting elderly individuals can be prevented and significant improvements in quality of life can be achieved.

Heyde syndrome: prevalence and outcomes in patients undergoing transcatheter aortic valve implantation

Background Heyde syndrome (HS) is known as the association of severe aortic stenosis (AS) and recurrent gastrointestinal bleeding (GIB) from angiodysplasia. Data on the prevalence of HS and results after TAVI remain scarce. Methods 2548 consecutive patients who underwent TAVI for the treatment of AS from 2008 to 2017 were evaluated for a history of GIB and the presence of HS. The diagnosis of HS was defined as a clinical triad of severe AS, a history of recurrent GIB, and an endoscopic diagnosis of angiodysplasia. These patients (Heyde) were followed to investigate clinical outcomes, bleeding complications and the recurrence of GIB and were compared to patients with GIB unrelated to HS (Non-Heyde). Results A history of GIB prior to TAVI was detected in 190 patients (7.5%). Among them, 47 patients were diagnosed with HS (1.8%). Heyde patients required blood transfusions more frequently compared to Non-Heyde patients during index hospitalization (50.0% vs. 31.9%, p = 0.03). Recurrent GIB was detected in 39.8% of Heyde compared to 21.2% of Non-Heyde patients one year after TAVI (p = 0.03). In patients diagnosed with HS and recurrent GIB after TAVI, the rate of residual ≥ mild paravalvular leakage (PVL) was higher compared to those without recurrent bleeding (73.3% vs. 38.1%, p = 0.05). Conclusion A relevant number of patients undergoing TAVI were diagnosed with HS. Recurrent GIB was detected in a significant number of Heyde patients during follow-up. A possible association with residual PVL requires further investigation to improve treatment options and outcomes in patients with HS. Graphic abstract

Anti-Ganglioside Antibody Negative Miller Fisher Syndrome with Atypical Features: A Case Report

Miller Fisher Syndrome (MFS), a variant of Guillain Barre Syndrome (GBS), is an immune-mediated neuropathy presenting with the classical clinical triad of ophthalmoplegia, ataxia, and areflexia. Although the clinical triad is the cardinal diagnostic clue, it can also present with a variety of other atypical neurological symptoms and signs beyond the classical triad. IgG anti-GQ1b antibodies are a powerful serological marker for the diagnosis of MFS, however, they can be absent in 10-15% cases of MFS. Here, we are describing a case of a 55-year old lady with an anti-ganglioside negative case of MFS with ptosis and bulbar palsy, who improved with IVIg.