Classic Clinical Triad Research Articles

Wernicke's Encephalopathy

Wernicke encephalopathy is a thiamine deficiency condition that has a wide range of somatic causes in addition to alcohol abuse. Most patients do not have the classical clinical triad — oculomotor dysfunction, ataxia and cognitive impairment at the onset of the disease, which makes timely diagnosis difficult. The disease may manifest as dizziness, unsteadiness, double vision, or cognitive impairment. Key clinical manifestations include symmetrical gaze-evoked nystagmus, truncal ataxia, bilateral abducens paresis, internuclear ophthalmoplegia, bilateral vestibular-ocular reflex reduction, and anterograde amnesia. To make a diagnosis, the presence of a condition leading to thiamine deficiency is required. The diagnosis is confirmed by MRI, but even with clinical suspicion of Wernicke encephalopathy, it is necessary to initiate parenteral therapy with thiamine in an adequate dose. With timely treatment, the disease has a good prognosis.

7443 Severe Hypothyroidism and Adrenal Insufficiency in a 27-Year-Old Male with Klippel-Feil Syndrome: A Case Report

Abstract Disclosure: S. Almardini: None. F. Haddadin: None. L. Aoun: None. F. Saliba: None. J. Zaidan: None. Background: Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by improper segmentation of the cervical vertebrae. The classical clinical triad consists of short neck, low posterior hairline, and limited neck mobility. It is uncommonly associated with endocrine abnormalities. We present a rare case of KFS with severe primary hypothyroidism. Case Presentation: A 27-year-old male with KFS presented for evaluation of profound fatigue and lack of energy. His vital signs revealed a heart rate of 50 and a borderline low blood pressure. On physical exam patient was noted to be lethargic and icteric, thyroid exam was limited due to patient short neck. Labs were consistent with severe hypothyroidism TSH of 825 mIU/L, total T4 <0.4 mcg/dL, low 8 AM cortisol of 4.3 mcg/dL, elevated LDL at 333 mg/dL, elevated liver enzymes AST 491 U/L, ALT 294 U/L, neutropenia with WBC 2.69 x10^3/uL 20% neutrophils and anemia Hb 12 g/dL. TPO and thyroglobulin antibodies were positive at 149.0 and 109.0 IU/mL respectively, 21 hydroxylase antibodies were negative. Thyroid Ultrasound showed small and diffusely heterogenous thyroid. Patient was started on Levothyroxine 125 mcg daily and hydrocortisone with improvement in his symptoms as well as normalization of his lipid panel, liver enzymes and neutropenia. The patient was continued on levothyroxine 125 mcg, hydrocortisone was tapered and repeat cortisol levels were normal. Discussion: This case demonstrates an unusual association between KFS and hypothyroidism secondary to Hashimoto thyroiditis, likely representing an incidental finding rather than a causative relationship. The cervical spinal abnormalities and short neck characteristic of KFS could potentially lead to compression of neurological and vascular structures in the neck. However, this is unlikely to fully explain our patient's hypothyroidism. There are few published case reports of KFS with endocrine disorders in the literature that describe incidental findings like autoimmune thyroiditis and hypoparathyroidism, but there is no known biological mechanism linking KFS and endocrine dysfunction. Moreover, there is no evidence in either our patient's case or in existing literature to suggest a higher occurrence of autoimmune disorders like Hashimoto in such individuals. Conclusion: we present a novel case of KFS found incidentally with primary hypothyroidism. While these endocrine disorders could compound the growth delay and developmental issues typically seen in KFS, they do not appear to be causally related. This case highlights the need to monitor endocrine function in KFS patients and serves as a reminder that common conditions may co-occur simply by chance. Presentation: 6/3/2024

Saddled by the Saddle Nose: A Case of Wegener's Granulomatosis

Wegener's Granulomatosis with polyangiitis (GPA) is a systemic disease of unknown etiology characterized by necrotizing granulomatous inflammation, tissue necrosis, and variable degrees of vasculitis in small- and medium-sized blood vessels. The classical clinical triad consists of involvement of the upper airways, lungs, and kidneys. Saddle-nose deformity is a well-recognized complication of GPA but more commonly occurs due to leprosy, trauma, cocaine abuse, and sarcoidosis. Since this entity is not commonly encountered in our country, we present a unique case of a middle-aged woman presenting with saddle-nose deformity and the diagnostic dilemmas faced by us. This case is being reported due to its rarity in Indian literature.

IJCM_384A: Sudden death due to a ruptured ectopic: An Autopsy case

Background: An Ectopic pregnancy occurs when fertilized ovum is implanted outside the uterine cavity. Typically, the site of this ectopic pregnancy is the Fallopian tube in about 93-97% of ectopic pregnancies. Only 50% of patients present with the classic clinical triad of ectopic pregnancy i.e., pain, amenorrhea, and vaginal bleeding. It is extremely important to diagnose a case of ectopic pregnancy to prevent rupture and internal bleeding Case Report: A 35-year-old Female, was brought to a hospital, gasping, complaining of pain abdomen, and abdominal distension. Pulses could not be felt, GCS was 3/15, blood pressure was not recordable. She was shifted to the Intensive Care Unit and intubated. Fluid correction was attempted and ionotopes were started. USG abdomen showed a hemoperitoneum, pelvic hematoma, and ruptured right adnexa. The patient was taken up for an emergency laprotomy and had a cardiac arrest on table, but could not be resuscitated. Following an Medicolegal case the body was subjected for postmortem examination, the relevant findings at autopsy will be discussed.

KLIPPEL FEIL SYNDROME AND ASSOCIATED ANOMALIES

Introduction: Klippel-Feil syndrome (KFS) is a rare genetic disorder characterized by abnormal the development of the cervical spine, which leads to the fusion of two or more cervical vertebrae. Incidence is 1:40 000 - 42 000. Inheritance is usually autosomal dominant. The gene mutation is most often found on the long arm of chromosome 8q22.1.The syndrome was first described by French physicians, Maurice Klippel and André Feil in 1912 with the classic clinical triad of manifestations consisting of a low posterior hairline, short neck, and limited neck range of motion. There may be skin folds on the neck - Pterygium colli, and the shoulder blades are high - Sprengel Deformity. Scoliosis is often present. Accompanying, hidden anomalies may be more important than neck deformity. A clinical finding with an objective examination is sufficient to suspect this syndrome. And then additional diagnostic methods are applied. Surgical intervention is carried out in the event of instability on the spine with the aim of eliminating it, as well as correcting scoliosis. Therapy of accompanying anomalies - kidney, neurological disorders, hearing disorders. Physical therapy is also recommended, which gives modest results. The life span of people with Klippel-Feil syndrome is shortened due to frequent anomalies of the internal organs. Case report: The paper presents a girl aged 10 years and 10/12 months. Pronounced hypertelorism. On the upper lip, a scar after cleft lip and palate surgery, left. Teeth carious, irregularly arranged. Neck short with pterygium. Low hairline. Pronounced scoliosis. High position of the shoulder blades. Abdominal ultrasound shows agenesis of the right kidney. IVP - the right kidney is not shown, the left kidney is compensatory enlarged. A diagnosis of Klippel Feil syndrome was made in a tertiary institution. Parents refuse further tests and treatment. Conclusion: In every child with Klippel-Feil syndrome, further examination and detection of accompanying, hidden anomalies that may be more important than the neck deformity is necessary.

Management of pediatric hemolytic uremic syndrome.

Classical clinical triad of hemolytic uremic syndrome (HUS) is microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury associated with endothelial cell injury. Several situations, including infections, medications, malignancies, and transplantation can trigger endothelial damage. On the HUS spectrum, atypical hemolytic uremic syndrome (aHUS) deserves special attention in pediatric patients, as it can cause endstage kidney disease and mortality. A dysfunction in the alternative complement pathway, either acquired or genetic, has been shown to be the main underlying cause. In the last decades, breathtaking advances have been made in understanding the pathophysiology of this rare disease, which has led to more efficient treatment. Recent studies have implicated genes in pathways beyond the alternative complement system, such as DGKE, TSEN2, and INF2 highlighting the importance of personalized management. Eculizumab has brought about dramatic improvements in the treatment of aHUS. Beyond eculizumab, there are many alternative therapeutics in the pipeline that target the complement system. Because of the rarity of aHUS, data from multiple patient registries are very important. The present report aimed to summarize the most important aspects of diagnosing and treating aHUS based on the Turkish national registry and the literature so as to improve clinical practice.

Bickerstaff brainstem encephalitis, an uncommon presentation in a child: a case report

BackgroundThe typical clinical and radiological presentation of Bickerstaff brainstem encephalitis (BBE) has been highlighted in this case report.Case presentationBickerstaff encephalitis is a rare autoimmune inflammatory disorder and is considered a subtype of Guillain–Barré syndrome (GBS) along with Miller Fisher syndrome. The diagnosis of BBE is largely clinical, though laboratory tests and imaging can be of supportive value. We report a case of a 5-year-old child who presented with a classical clinical triad of BBE with characteristic magnetic resonance imaging (MRI) findings.ConclusionsBBE is a rare disease with very few cases being reported with typical clinical and radiological findings. Hence, we reported a typical case of BBE to make an addition to the available literature.

Melkersson-rosenthal sendromu

The Melkersson-Rosenthal syndrome (MRS) is a rare neuro mucocutaneous granulomatous disease presenting with recurrent peripheral facial paralysis, orofacial oedema, and fissured tongue. The coexistence of the classic clinical triad is rare. Clinical findings and examination make the diagnosis. It should be considered in the differential diagnosis of recurrent facial paralysis. In this case report, a 42-year-old female patient with the classical triad of MRS is presented.

Presentación tardía de una encefalopatía de Wernicke tras gastrectomía por adenocarcinoma gástrico: a propósito de un caso

La encefalopatía de Wernicke es una emergencia neurológica caracterizada por la tríada clínica clásica de oftalmoplejia, ataxia y alteración del estado mental, que conlleva alta morbimortalidad. Se debe a un déficit de la vitamina B1 (tiamina), que en su forma activa desempeña un papel esencial en el metabolismo de neuronas de áreas específicas del cerebro. Aunque el alcoholismo es la causa más frecuente de este déficit, se han descrito numerosos agentes que pueden alterar la biodisponibilidad o el metabolismo de la tiamina (1), entre las que cabe destacar la cirugía del tracto gastrointestinal, sobre todo tras cirugía bariátrica. Por lo general el cuadro se produce entre las semanas cuatro y doce tras la resección, pero excepcionalmente se han descrito casos que ocurren de forma tardía (años). Presentamos el caso de un paciente intervenido de gastrectomía por un adenocarcinoma antropilórico que desarrolló una encefalopatía de Wernicke a los ocho años de la resección quirúrgica.

Perineal scar endometriosis

The presence of ectopic endometrial tissue outside the uterine cavity is referred to as endometriosis. It is a harmless condition that is commonly seen in women of reproductive age. It can happen in both the pelvic and extra-pelvic areas. Endometriosis in an episiotomy scar is extremely rare, but due to local infiltration, it can cause significant morbidity in patients. The presence of the classic clinical triad of episiotomy history, tender nodule at the scar site, and cyclical pain can be used to diagnose this condition. Magnetic resonance imaging is a very useful imaging modality for diagnosing and assessing the lesion’s deeper extent.

Chicken Bone Ingestion Leads to Aortoesophageal Fistula With Catastrophic Bleeding.

Aortoesophageal fistula (AEF) is an uncommon, but potentially fatal cause of upper gastrointestinal bleeding. Aortoesophageal fistulas caused by foreign body ingestion are rare but devastating. The classic clinical triad of AEF consists of mid-thoracic pain or dysphagia, a herald episode of hematemesis, followed by fatal exsanguination after a symptom-free period (Chiari's triad). Computed tomography angiography (CTA) is the preferred diagnostic tool for identifying AEF and is substantially more sensitive than upper endoscopy for detecting AEF. Endoscopy can detect AEF as it might show pulsatile blood, pulsatile mass, hematoma, or adherent blood clot in the esophagus, or a deep esophageal tear. However, endoscopy has a low sensitivity and may delay definitive treatment. Several management options for AEF have been suggested; however, the definitive treatment is surgery performed on the thoracic aorta and esophagus, including esophagectomy, surgical replacement of the thoracic aorta, thoracic endovascular aortic repair, or omental flap. We report a case of a 63-year-old man who presented with hematemesis 2 weeks after chicken bone ingestion.

Granulomatose com poliangiíte na infância: experiência de um centro de referência terciário no Ceará (BR)

Granulomatosis with polyangiitis (GPA) is an ANCA-associated necrotizing granulomatous vasculitis. It is rare in the pediatric population and predominantly affects small and medium-sizes blood vessels; it preferentially involves the kidneys and the upper and lower respiratory tract. This retrospective case series looked into the medical charts of children and adolescents aged up to 18 years diagnosed with the condition based on the EULAR/PReS criteria in the period ranging from 2014 to 2019. It describes clinical characteristics, laboratory findings and treatment options, along with the progress of GPA in children. In our series, GPA predominantly affected females (80%) and the median age at diagnosis was 11.1 years. The classic clinical triad comprising granulomatous inflammation, pauci-immune necrotizing glomerulonephritis, and upper and lower respiratory tract involvement, was highly prevalent, and delays in diagnosis occurred particularly in individuals with mild kidney or lung involvement. Laboratory findings included elevated erythrocyte sedimentation rate, anemia, and hematuria; alterations included sinus disease, pulmonary infiltrates, nodules, and cavitation seen on CT scans of the head and chest, all of which are key diagnostic elements. All patients were treated with glucocorticoids and cyclophosphamide. Morbidity remained significant and unchanged throughout the course of the disease. Clinical and laboratory findings and prescribed treatments were consistent with the literature. Given its severity, this disease requires early recognition, aggressive initial treatment, and long-term patient follow-up.

The first living newborn case with 7706G˃A missense mutation: Alpers-Huttenlocher syndrome

Alpers-Huttenlocher syndrome (AHS) is an uncommon autosomal recessive mitochondrial DNA depletion disease. The classic clinical triad of progressive developmental regression, liver degeneration, and seizures helps define the disorder, but a wide range of clinical expressions occur. The most common mutations in childhood have been identified in the cytochrome c oxidase Ⅰ and Ⅳ genes. The 7706G˃A missense mutation in the Cox Ⅱ gene was previously reported in one case after postmortem histological study. Consequently, our patient is the first patient diagnosed with AHS with a 7706G˃A missense mutation in the Cox Ⅱ gene while alive. We proposed that 7706G˃A missense mutation is rare and should be more lethal than other mutations that cause Alpers-Huttenlocher syndrome.

Clinical Features of Idiopathic Normal Pressure Hydrocephalus: Critical Review of Objective Findings.

Idiopathic normal pressure hydrocephalus (iNPH) is characterized by the classic clinical triad of gait, cognitive, and urinary dysfunction, albeit incomplete in a relevant proportion of patients. The clinical findings and evolution of these symptoms have been variably defined in the literature. To evaluate how the phenomenology has been defined, assessed, and reported, we performed a critical review of the existing literature discussing the phenomenology of iNPH. The review also identified the instrumental tests most frequently used and the evolution of clinical and radiologic findings. The review was divided into 3 sections based on gait, cognitive, and urinary dysfunction. Each section performed a literature search using the terms "idiopathic normal pressure hydrocephalus" (iNPH), with additional search terms used by each section separately. The number of articles screened, duplicates, those meeting the inclusion criteria, and the number of articles excluded were recorded. Findings were subsequently tallied and analyzed. A total of 1716 articles with the aforementioned search criteria were identified by the 3 groups. A total of 81 full-text articles were reviewed after the elimination of duplicates, articles that did not discuss phenomenological findings or instrumental testing of participants with iNPH prior to surgery, and articles with fewer than 10 participants. "Wide-based gait" was the most common gait dysfunction identified. Cognitive testing varied significantly across articles, and ultimately a specific cognitive profile was not identified. Urodynamic testing found detrusor overactivity and "overactive bladder" as the most common symptom of urinary dysfunction.

Susac Syndrome: Description of a Single-Centre Case Series.

This study describes the clinical characteristics, diagnostic results, treatment regimens, and clinical course of a cohort of patients with Susac syndrome (SS). It is a retrospective observational study of all patients with the diagnosis of SS evaluated at the Hospital Clinic (Barcelona, Spain) between March 2006 and November 2020. Nine patients were diagnosed with SS. The median time from the onset of the symptoms to diagnosis was five months (IQR 9.0), and the median follow-up time was 44 months (IQR 63.5). There was no clear predominance of sex, and mean age of symptoms onset was 36 years (range 19-59). Six patients (67%) presented with incomplete classical clinical triad, but this eventually developed in six patients during the disease course. Encephalopathy, focal neurological signs, visual disturbances, and hearing loss were the most frequent manifestations. Brain magnetic resonance imaging showed callosal lesions in all patients. Most were in remission within two years. Only four patients met the proposed criteria for definite SS. When SS is suspected, a detailed diagnostic workup should be performed and repeated over time to identify the clinical manifestations that will lead to a definite diagnosis.

Klippel Feil Syndrome Type III With Associated Rare Congenital Anomalies (Sprengel Deformity, Scoliosis, and Atlanto-Occipital Assimilation): A Rare Case Report

Klippel Feil Syndrome (KFS) is a congenital anomaly having fusion of 2 or more cervical vertebral bodies characterized by the presence of classic triad of low posterior hairline, short neck, and restricted range of motion. We have reported a rare case of Type III Klippel Feil Syndrome having classical clinical triad with Sprengel deformity and atlantooccipital assimilation. The baby was born at Sanjay Gandhi Memorial Hospital, Mangolpuri, New Delhi, India. The detailed discussion is done in the case report. Prognosis is based on radiological classification by Samartzis et al which classifies KFS under 3 types with type II as the commonest variety. Associated anomalies include scoliosis or kyphosis, renal disease, Sprengel deformity, loss of hearing, synkinesis or mirror movements, congenital heart defects, craniofacial malformations, and skeletal abnormalities of ear, nose, mouth and larynx. Proper management requires multidisciplinary approach including neurologist, orthopedic surgeon, pediatrician, nurse practitioner, physical therapist, and neurosurgeon.

Acute Cognitive Dysfunction in a Patient With Traumatic Brain Injury: A Clinical Vignette.

Acute Cognitive Dysfunction in a Patient With Traumatic Brain Injury: A Clinical Vignette.

Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is now increasingly identified from all countries over the world, possibly rendering it one of the most common autosomal recessive ataxias. Here, we selected patients harboring SACS variants, the causative gene for ARSACS, in a large cohort of 137 patients with early-onset ataxia recruited from May 2019 to May 2021 and were referred to the ataxia clinic. Genetic studies were performed for 111 out of 137 patients (81%) which led to a diagnostic rate of 72.9% (81 out of 111 cases). Ten patients with the molecular diagnosis of ARSACS were identified. We investigated the phenotypic and imaging spectra of all confirmed patients with ARSACS. We also estimated the frequency of ARSACS in this cohort and described their clinical and genetic findings including seven novel variants as well as novel neuroimaging findings. While the classic clinical triad of ARSACS is progressive cerebellar ataxia, spasticity, and sensorimotor polyneuropathy, it is not a constant feature in all patients. Sensorimotor axonal-demyelinating neuropathy was detected in all of our patients, but spasticity and extensor plantar reflex were absent in 50% (5/10). In all patients, brain magnetic resonance imaging (MRI) showed symmetric linear hypointensities in the pons (pontine stripes) and anterior superior cerebellar atrophy as well as a hyperintense rim around the thalami (thalamic rim). Although infratentorial arachnoid cyst has been reported in ARSACS earlier, we report anterior temporal arachnoid cyst in two patients for the first time, indicating that arachnoid cyst may be an associated imaging feature of ARSACS. We also extended molecular spectrum of ARSACS by presenting 8 pathogenic and one variant of unknown significance (VUS) sequence variants, which 7 of them have not been reported previously. MetaDome server confirmed that the identified VUS variant was in the intolerant regions of sacsin protein encoded by SACS.

Hereditary Hemochromatosis: an Inherited Abnormality of Iron Regulation

Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease characterized by abnormalities in iron regulation, mostly due to mutations in the HFE gene, leading to increased iron absorption due to hepcidin deficiency. The classification of HH is based on the type of mutated gene, which must be distinguished from non-genetic conditions that cause secondary elevations in serum iron levels such as multiple transfusions and increased iron supplementation. Pathophysiological mechanisms of HH include increased absorption of iron in the upper intestine, decreased expression of the iron regulatory hormone hepcidin, altered function of the HFE protein, and tissue damage and fibrogenesis caused by iron overload. The human body is physiologically unable to excrete excess iron load so excess iron in serum will be deposited in various organs, causing organ dysfunction. The clinical manifestations of hemochromatosis vary widely depending on the location of iron deposition in the organ. The classic clinical triad of hemochromatosis is liver cirrhosis, skin pigmentation, and diabetes mellitus. Hemochromatosis can be screened for and diagnosed by examining serum ferritin levels, transferrin saturation, unsaturated iron-binding capacity, total iron-binding capacity, liver biopsy, magnetic resonance imaging, and genetic testing. The main treatment for hemochromatosis at this time is phlebotomy although other therapeutic methods can also be used to help lower iron levels and improve the patient’s clinical course, such as therapy with chelating agents, erythrocytopharesis, and liver transplantation. If hemochromatosis is not treated, the patient can experience progressive liver damage leading to cirrhosis and hepatocellular carcinoma, and complications due to damage to various tissues and organs.

28276 Acrodermatitis enteropathica

Introduction: Acrodermatitis enteropathica is a rare autosomal recessive congenital disorder caused by zinc malabsorption with a classic clinical triad of perioral, intertriginous and acral dermatitis, alopecia, and diarrhea. Blistering is rarely seen as part of the dermatitic eruption of this disease and it is therefore often forgotten on the differential diagnosis of acute blistering in an infant.