Atypical Presentation of Longstanding Overt Ventriculomegaly in Adults: A Case Report.

Hydrocephalus involves the enlargement of the ventricular system due to increased cerebrospinal fluid. This condition often presents with ventriculomegaly, associated with cognitive decline, gait disturbances, visual changes, and other neurological symptoms. In adults, hydrocephalus may result from longstanding overt ventriculomegaly in adults (LOVA), characterized by macrocephaly, subnormal IQ, urinary incontinence, and gait issues. In a recent case report, a 52-year-old Hispanic female displayed similar predisposing factors and radiological findings for a LOVA diagnosis. Despite the absence of focal neurological deficits or typical complaints, she experienced a breakthrough seizure episode after years without incident.

A meta-analysis of Chikungunya virus in neurological disorders.

Chikungunya disease typically presents with the fever-arthralgia-rash symptom triad. However, an increase in the number of atypical clinical manifestations, particularly neurological disorders, has occurred. The current evidence regarding the pooled prevalence of Chikungunya virus (CHIKV)-associated neurological cases (CANCs) suspected of having an arboviral aetiology is not well-understood. Therefore, this meta-analysis included 19 studies (n = 7319 patients) and aimed to determine the pooled rate of exposure to CANC. The pooled positivity rate of CANC was 12 % (95 % CI: 6-19), and Brazil was overrepresented (11/19). These estimations varied between 3 and 14 % based on the diagnostic method (real-time PCR vs. ELISA-IgM) and biological samples (cerebrospinal fluid or blood specimens) used for detection of CHIKV. Regarding the frequency of CHIKV in neurological clinical subgroups, the rates were higher among patients with myelitis (27 %), acute disseminated encephalomyelitis (27 %), Guillain-Barré syndrome (15 %), encephalitis (12 %), and meningoencephalitis (7 %). Our analysis highlights the significant burden of CANC. However, the data must be interpreted with caution due to the heterogeneity of the results, which may be related to the location of the studies covering endemic periods and/or outbreaks of CHIKV. Current surveillance resources should also focus on better characterizing the epidemiology of CHIKV infection in neurological disorders. Additionally, future studies should investigate the interactions between CHIKV and neurological diseases with the aim of gaining deeper insight into the mechanisms underlying the cause-and-effect relationship between these two phenomena.

The gene diagnosis of neurofibromatosis type I with headache as the main symptom: A case report and review of the literature.

Neurofibromatosis type I (NF1) is an autosomal dominant disease. Some NF1 patients experience atypical clinical manifestations, genetic testing is not widely available, and the types of mutations vary; thus, they are prone to misdiagnosis and missed diagnosis. Although headache is not included in the diagnostic criteria for NF1, the incidence of headache in NF1 patients is not low. We report an NF1 family in which the proband presented with prominent headache and atypical clinical presentation, with limited skin pigmentation. We identified a frameshift mutation (c.1541_1542del, p. Q514Rfs*) in the NF1 gene by whole-exome sequencing of this family, and the patients were diagnosed with NF1. We hope to attract the attention of clinicians to these patients and improve genetic testing as soon as possible to increase the diagnosis rate.

Co-Occurring Atypical Galactosemia and Wilson Disease.

Introduction: Classic galactosemia is a disorder of the galactose metabolism and is inherited as an autosomal recessive disease. It is caused by a complete or severe deficiency of galactose-1-phosphate uridyltransferase (GALT), and in rare cases, atypical galactosemia can manifest at older ages. Wilson disease (WD) is a disorder of the copper metabolism that, like galactosemia, is inherited as an autosomal recessive disease. Hepatic, neurological, or psychiatric symptoms can be seen, independently or in combination, and symptoms vary from family to family. We present here a patient diagnosed with both WD and galactosemia. Case Presentation: A 6-year-old girl was referred to our center with elevated transaminase levels and hepatosplenomegaly. The child, birthweight of 2,200 g, was born to first-degree consanguineous parents after a full-term uneventful pregnancy and was hospitalized in the neonatal period due to indirect hyperbilirubinemia, gastrointestinal bleeding, diarrhea lasting 2 weeks, and elevated liver enzymes. Hepatosplenomegaly was evident at the time of admission, a cataract was detected, and a neuropsychiatric evaluation revealed borderline mental capacity, as well as cognitive and speech retardation. Metabolic investigations revealed no specific findings other than trace positivity of reducing substances in the urine. A liver biopsy revealed copper accumulation in hepatocytes and low ceruloplasmin levels. Although WD was suspected in the patient, this diagnosis did not explain the intellectual disability, behavioral disorder, or cataract findings. A genetic analysis revealed homozygous mutations in the ATP7B and GALT genes. The galactose-1-phosphate uridyltransferase enzyme level was found to be low, and the patient was diagnosed with coexisting WD and galactosemia. Conclusion: Coexistences of rare genetically transmitted diseases can be seen in countries where consanguineous marriages are common (Saudi Arabia, Iran, Pakistan, etc.), as in our country, Turkey.

Atypical manifestations of acute viral hepatitis A in children in Bangladesh: Are these really uncommon?

BACKGROUND/AIM: The aim of this study was to find out the clinical spectrum of acute viral hepatitis A (AVH-A) infection in children, the relationship between atypical manifestations and laboratory findings and the outcome of patients with typical and atypical hepatitis A virus (HAV) manifestations. METHODS: From January 2018 to September 2019, consecutive children (<18 years of age) with features suggestive of AVH with positive IgM anti-HAV both from inpatient and outpatient services were included in this study. Detailed history, physical findings, and investigations were recorded in the study questionnaire. Patients were followed up weekly until complete recovery. The Statistical Package for the Social Sciences (SPSS) version 22 was used for statistical analysis. RESULT: The mean age of 200 children who were finally included in the study was 8.3±3.5 years with male to female ratio of 134:66. Atypical features were present in 30 (15%) children; prolonged cholestasis (17, 8.5%), ascites (12, 6%), pleural effusion (4, 2%), thrombocytopenia (2, 1%), and hemolysis (1, 0.5%) were observed. Pruritus (p=0.005), higher serum total and direct bilirubin (p=0.00 and 0.001 respectively), and lower serum albumin (p=0.01) levels were statistically significant in children with atypical manifestations. Moreover, this group had prolonged mean duration of jaundice and hospital course (p=0.00 and 0.083 respectively). CONCLUSION: Atypical manifestations such as prolonged cholestasis and ascites are not uncommon in children with AVH-A in developing countries and seen in almost one-sixth of patients.

The Multifaceted COVID-19: CT Aspects of Its Atypical Pulmonary and Abdominal Manifestations and Complications in Adults and Children. A Pictorial Review.

Our daily experience in a COVID hospital has allowed us to learn about this disease in many of its changing and unusual aspects. Some of these uncommon manifestations, however, appeared more frequently than others, giving shape to a multifaceted COVID-19 disease. This pictorial review has the aim to describe the radiological aspects of atypical presentations and of some complications of COVID-19 disease in adults and children and provide a simple guide for radiologists to become familiar with the multiform aspects of this disease.

Challenging diagnosis of leprosy in a psychotic homeless patient with atypical clinical manifestations: an interesting case report.

BACKGROUND: A decision to diagnose certain skin diseases in patient undergoing psychotic break is challenging; this includes establishing the diagnosis of leprosy. Diagnosis of leprosy is established if there is at least one of the three cardinal signs of leprosy. Histopathological examination is not a gold standard, but remains useful in atypical or clinically suspicious cases. CASE PRESENTATION: We report for the first time, an interesting case of leprosy with atypical clinical manifestations in a psychotic homeless male with unknown history of present illness. Upon examination, hypopigmented macules, hyperpigmented macules, and plaques were observed, with unclear sensation impairment. Peripheral nerve thickening and acid-fast bacilli from slit-skin smear were not found. Histopathological examination from hypopigmented macule on the upper right limb showed no granulomatous reaction and other histopathological features of leprosy. Although the condition did not fulfill the cardinal signs of leprosy, we found lagophthalmos, claw hands, pseudomutilation of fingers and toes. Therefore, the diagnosis of suspected leprosy was established. The patient was hospitalized and attempts to administer oral rifampicin and clofazimine were made. Several days after treatment, annular erythematous macules appeared on the patient's face, abdomen, and back. Histopathological examination results on sample taken from erythematous macule and right sural nerve were consistent with the diagnosis of leprosy with reversal reaction. CONCLUSION: In certain conditions, histopathological examination of the skin and nerves are a highly rewarding test in establishing a diagnosis of leprosy.

Clinical profile and atypical manifestation of dengue fever cases between 2011 and 2018 in Chennai, India.

INTRODUCTION: Dengue fever is a common mosquito-borne viral disease which has reached alarming size in the past few years. It is endemic in more than 100 countries and significant differences were found in clinical profile and atypical manifestation. AIM OF THE STUDY: A retrospective observational study of clinical profile and atypical manifestations in patients with dengue fever. MATERIALS AND METHODS: Serum samples were collected from clinically suspected cases of dengue fever and it was confirmed by NS1 antigen, IgM, and IgG antibody by ELISA. Clinical details and atypical manifestations were recorded. OBSERVATION: During the study period, a total of 2502 patients were suspected to have dengue infection, of which 464 (18.5%) samples were found to be positive for dengue viral infection. A majority of the cases were males [268 (57%)] when compared with females [196 (42%)]. Fever was the most common clinical presentation seen in all the patients, followed by headache (78.4%), myalgia (61%), body pain (49.3%), vomiting (40%), joint pain (31.5%), dry cough (19%), nausea (14%), abdominal pain (8%), diarrhea (5.6%), retro-orbital pain (04%), burning micturition (2.4%), and rashes (0.6%). Among atypical manifestations, hepatomegaly [32 (7%)] was the most common, followed by splenomegaly [23 (5%)], bradycardia [18 (4%)], meningitis [6 (1.2%)], hemoptysis [5 (1%)], acalculous cholecystitis [4 (0.8%)], and acute pancreatitis [2 (0.4%)]. The study of hematological parameters showed thrombocytopenia was present in 179 (38.5%) patients, followed by leukopenia [77 (17%)] and raised hematocrit [29 (6.2%)]. CONCLUSION: During ongoing epidemics, the clinical profile and atypical manifestations in clinically suspected dengue patients should be investigated early so that severe forms can be treated promptly.

Atypical Presentation of Bilateral Retinoblastoma with Floaters and Sub-Internal Limiting Membrane Seeds in an 11-Year-Old Asian Indian Male.

PURPOSE: To report bilateral retinoblastoma in an 11-year-old child presenting with floaters and sub-internal limiting membrane (sub-ILM) seeds. METHOD: An 11-year-old child presented with floaters of 4 months' duration. Examination revealed circumscribed, whitish, subhyaloid, floccular nodules in the juxtapapillary region of both eyes. No solid tumor was seen. Swept-source optical coherence tomography revealed moderately reflective echoes in the sub-ILM space. Vitreous aspiration of sub-ILM deposits and cytopathological examination revealed retinoblastoma. Intravitreal melphalan (20 µg/0.02 mL) was followed by 6 monthly cycles of high-dose systemic chemotherapy (vincristine, etoposide, carboplatin). Metastatic workup and genetic testing for RB1 mutational screening were negative. Ocular lesions resolved after 13 weeks of treatment. Brain metastases developed after 20 weeks and were treated with radiation. Bilateral vitreous seeds recurred at 44 weeks and were treated with intravitreal chemotherapy (melphalan 20 µg/0.02 mL and topotecan 20 µg/0.02 mL). There was no extra-ocular spread from sclerotomy sites. RESULTS: Retinoblastoma and brain metastases resolved with multimodal treatment without recurrence at 59 weeks of follow-up. CONCLUSION: Atypical manifestation of retinoblastoma can be seen in older children presenting with "floaters" and bilateral deposits of sub-ILM seeds, without solid tumor.

Head and neck giant cell arteritis: an autoimmune disease with many faces.

CONCLUSION: A high rate of infrequent presentations of giant cell arteritis were seen in the ENT department and should be anticipated as a differential diagnosis in every older patient with odynophagia with high CRP values without cause in thorough ENT examination. OBJECTIVE: To describe the clinical manifestation of head and neck giant cell arteritis and to derive a diagnostic pathway covering atypical cases. METHOD: Single-center, retrospective analysis of cases with GCA in the head and neck region (HN-GCA) (2002-2012) to describe the clinical presentation and to derive a diagnostic pathway covering manifestations presenting to an ENT department. RESULTS: Sixty-five patients were newly diagnosed with HN-GCA in the department of otolaryngology, ophthalmology and neurology. The most frequent symptoms were loss of vision (83%) and new onset headache (63%). Eight patients (12%) presented with infrequent manifestations, predominantly in the department of otorhinolaryngology. The most common atypical presentation (50%) was odynophagia in conjunction with high CRP values misleading to an infectious cause and delaying diagnosis. A diagnostic pathway for GCA was derived based on the ACR classification criteria and the clinical findings.

Expanded dengue syndrome: three concomitant uncommon presentations in the same patient.

We report a case of expanded dengue syndrome, where three uncommon presentations occurred concomitantly. A patient with dengue haemorrhagic fever presented initially with acute acalculous cholecystitis along with acute pancreatitis, but later on, during resolution of pancreatitis and cholecystitis, developed pancytopenia, most likely due to haemophagocytic syndrome. Such presentations, besides being rare themselves, have not been reported to occur concomitantly, in the same patient, during the same disease process.

Apresentação atípica da oftalmopatia de Graves / Atypical presentation of Graves’ ophthalmopathy

A oftalmopatia de Graves é a doença orbitária mais comum e acomete 25 a 50% dos pacientes portadores da Doença de Graves e é mais frequente no sexo feminino, entre a segunda e quinta décadas de vida. A doença apresenta uma fase aguda e uma crônica, evoluindo lenta e progressivamente até estabilizar, sendo raros os casos de resolução espontânea. O tratamento dependerá da fase em que a doença se encontra e está baseado principalmente na corticoterapia via oral e endovenosa e/ou radioterapia, sendo a colchicina empregada em casos isolados. No seguinte relato de caso, abordaremos uma forma atípica de manifestação clínica da Oftalmopatia de Graves em paciente eutireoideia com anticorpos negativos na sua apresentação inicial.

Graves ‘ophthalmopathyis themost commonorbital diseaseand affects25-50% of the patients withGraves’ disease. It`s morecommon in females, between the second andfifth life`s decade. The disease hasanacute andachronic stage, slowly progressing until it stabilizes, with rarecasesof spontaneous resolution.The treatment depends on thestage andthe disease ismainly treated withoralor intravenous corticosteroids with or without radiotherapy;colchicine is usedin individual cases. In the followingcase report, we discuss an atypicalmanifestation ofGraves’ ophthalmopathyin an euthyroid patientwith negative antibodiesin the inicial presentation.

Clinical characteristics of hypertrophic herpes simplex genitalis and treatment outcomes of imiquimod: a retrospective observational study.

OBJECTIVE: Atypical presentations of herpes simplex genitalis are becoming more frequent. The aim of this study was to investigate the atypical clinical manifestations and treatment of this infection. METHODS: The charts of patients with herpes simplex genitalis who attended our clinics between January 2009 and December 2013 were reviewed retrospectively. RESULTS: Of 294 patients, 147 (50%) were male with a mean (standard deviation, SD) age of 48.3 (16.8) years. An ulcerative lesion was the most common symptom (48.3%), followed by vesicle clusters (36.4%). The mean duration of symptoms at first visit was 6 days. Oral acyclovir was administered to 87.6% of patients. Hypertrophic manifestations were observed in 4.8% (14/294) of patients; 50% (7/294) were male, with a mean age of 44.5 (SD 9) years. All patients with hypertrophic manifestations were infected with HIV. Hypertrophic manifestations had a mean duration of onset of 53.3 days. Acyclovir was prescribed to 11 (78.6%) patients. The mean duration to cure was 40.9 days. Topical imiquimod was given in six resistant cases (42.9%) as adjunctive therapy. CONCLUSIONS: Atypical manifestations of herpes simplex genitalis require careful consideration because their frequency is rising, particularly in patients with HIV infection. Although acyclovir is important in their treatment, imiquimod provides an additional benefit in resistant cases.

Cholelithiasis presented as chronic right back pain.

Chronic right back pain is a symptom in both biliary lithiasis and chronic cholecystitis. Ten percent of the population in the world suffers from biliary lithiasis. Only 20% are symptomatic. The first diagnostic test of choice is an abdominal ultrasound. When a suggestive clinical sign of biliary colic with negative abdominal ultrasound is identified, we should consider the option of carrying out an endoscopic ultrasound in order to rule out microlithiasis. The case discussed in the report presented with chronic right back pain, which is an atypical manifestation of biliary lithiasis and chronic cholecystitis. It is important to know about the atypical manifestations of the prevalent illnesses as well as the limits of the diagnostic tests, in order to avoid diagnostic delays which may cause complications that could worsen a patient's prognosis. This case should contribute to the medical knowledge and must have educational value or highlight the need for a change in clinical practice, especially in primary care.

Nonpigmenting Fixed Drug Eruption due to Codeine / 대한피부과학회지

Fixed drug eruption is a distinctive and clinically recognizable entity that is characterized by well-demarcated erythematous plaques recurring in exactly the same sites as on previous occasions. Unlike the pigmenting form of fixed drug eruption, nonpigmenting fixed drug eruption leaves no pigmentation when it resolves. We now report the case of a 44-year-old man who presented with diffuse ill-defined erythematous patches on both hands, feet and lower legs with a burning sensation, which is considered an atypical manifestation for fixed drug eruption. The patient had a history of similar skin lesions developing after medications on the corresponding regions. The patch test with suspected drugs showed negative reactions on both lesions and unaffected sites. The lesions were reproduced on the oral provocation test with codeine and resolved without pigmentation. The patient was diagnosed with nonpigmenting fixed drug eruption due to codeine.

Diagnosis and treatment of renal tuberculosis / 中华泌尿外科杂志

Objective To research the clinical manifestations of renal tuberculosis and improve the diagnosis and treatment of renal tuberculosis. Methods From 1993 to 2007,223 cases of renal tuberculosis were hospitalized. Retrospective analysis was complied for all the cases about age, clinical manifestations, imaging and treatment. Results The incidence rates of the renal tuberculosis were obviously higher in the 20-40 years old(41.7%) and in the 41-54 years old (36.3%). The course of this disease was from 1 day to 30 years(mean 38. 5 months). Only 36 patients (16.1%) were made a definite diagnosis when they went to see a doctor primary. The miediagnosis of urinary tract infec-tions( 50.3%) was most frequent. The clinical manifestations of most patients included frequency(54.7%), urgency(50.2%), odynuria(42.2%)and hematuria(58.7%). About 58. 3% patients pres-ented with over 3 kinds of above manifestations. The positive yield of the tuberculin test in urine was only 41.9%. The positive diagnostic rate of renal tuberculosis was only 35.7% in KUB+IVU,72.2%in Type-B Ultrasonic, 76.0% in CT test. One hundred and seventy-three cases were performed with nephrectomy(78.6%) and partial nephrectomy(21.4%). Two cases were treated with dialysis due to uremia. Standard medication was taken for the other 48 patiernts, and effective for 41 cases. Conclu-sions The incidence of atypical renal tuberculosis is increasing. More attention must be paid especially to those patients with urinary infection.