Complete Triad Research Articles

Case of Atypical Wernicke's Encephalopathy in a GB Cancer Patient

Wernicke’s encephalopathy (WE) is an acute neuropsychiatric syndrome resulting from thiamine deficiency. Traditionally, diagnosis of WE rests on a clinical symptom triad consisting of ocular signs, altered consciousness, and ataxia. However, the complete triad is only present in a fraction of cases, which means that WE tends to be under-diagnosed, especially in nonalcoholic patients. Brain MRI of WE patients usually shows symmetrical signal intensity alterations in the thalami, mammillary bodies, and periaqueductal area, because of cytotoxic edema in the same region. These typical findings are useful diagnostic leads in WE patients with atypical symptoms. However, atypical findings can occasionally be seen in the vermis of cerebellum and cerebellar nuclei. Notably, alterations of signal intensity in the cerebellar dentate nuclei, which is a typical finding of metronidazole-induced encephalopathy (MIE), need to be distinguished according to medication history and response to thiamine. (Korean J Med 2013;84:602-607)

Susac's syndrome: A case of simultaneous development of all three components of the triad

Susac's syndrome is characterized by the clinical triad of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. We here report a case of 46year old woman with a sudden diminution in visual acuity at the left eye, headache and decreased hearing at the right ear with mild confusion considered as Susac's syndrome with complete triad. Although it's a relatively rare entity, it should be kept in mind in differential diagnosis of the neurological disorders, especially in women in 20- to 40-year of age presenting with acute hearing loss.

Computer-aided modelling of three-dimensional maxillofacial tissues through multi-modal imaging

Recent developments in digital imaging techniques have allowed a wide spread of three-dimensional methodologies based on capturing anatomical tissues by different approaches, such as cone-beam computed tomography, three-dimensional photography and surface scanning. In oral rehabilitation, an objective method to predict surgical and orthodontic outcomes should be based on anatomical data belonging to soft facial tissue, facial skeleton and dentition (maxillofacial triad). However, none of the available imaging techniques can accurately capture the complete triad. This article presents a multi-modal framework, which allows image fusion of different digital techniques to create a three-dimensional virtual maxillofacial model, which integrates photorealistic face, facial skeleton and dentition. The methodology is based on combining structured light surface scanning and cone-beam computed tomography data processing. The fusion procedure provides multi-modal representations by aligning different tissues on the basis of common anatomical constraints.

Currarino syndrome: variable imaging features in three siblings with HLXB9 gene mutation

Currarino syndrome (CS) is characterized by the triad of partial sacral defect, anorectal malformation, and presacral mass and has been recently reported to be associated with mutations in the HLXB9 gene, which have been suggested to be the genetic background of CS. Phenotypic expression of the HLXB9 gene mutation in a CS family varies from an incomplete to a complete triad. We present variable clinical and imaging features of CS in three siblings with genetically identified HLXB9 mutation. Clinical presentation, management and outcome were also reviewed, and we suggest that magnetic resonance imaging should be used as a screening tool in the members of a CS family with genetic mutation in order to avoid morbidity and mortality from an undiagnosed presacral mass.

Re ‘Isolated eyelid edema in Melkersson–Rosenthal syndrome: a case series’

Sir, Rawlings et al1 have reported on a series of five patients with isolated eyelid edema and have made the diagnosis of Melkersson–Rosenthal syndrome on the basis of granulomatous inflammation. Melkersson–Rosenthal syndrome is described as a granulomatous disease with the triad of facial palsy, facial edema, and a fissured tongue, although the complete triad is reported to be seen in only 25% of cases.2 We have recently reported on a series of 15 patients with chronic eyelid edema, and in 9 of these cases (60%) there was an associated diagnosis of acne rosacea.3 Granulomatous inflammation was present in some of these patients, and this has been reported before in the presence of acne rosacea.4 Indeed, acne rosacea and Melkersson–Rosenthal syndrome have some overlap in their clinical and pathological features and both are classified as granulomatous dermopathies. The illustrations of Cases 1 and 2 in the series of Rawlings et al1 show facial features that would be consistent with acne rosacea, with rhinophymatous change and thickened glabellar skin. I suspect these two illustrated patients do indeed have acne rosacea rather than Melkersson–Rosenthal syndrome, and it would be of interest to know whether any of the other three patients in the series also showed features of rosacea. It is likely that Melkersson–Rosenthal syndrome is over diagnosed when the other features of the syndrome are absent, and many of the reported cases of eyelid edema as the only feature of the syndrome are more likely to have acne rosacea as the underlying cause of their eyelid edema. Such phymatous change in the eyelid was certainly the commonest cause in our series, which to date is the largest published series of chronic eyelid lymphedema.

Clinical Reasoning: A 62-year-old migraineur with a new kind of headache attacks

A 62-year-old man presented with novel headache attacks with acute onset 4 weeks previously strictly confined to the right side. The attacks occurred almost daily, often after midnight, lasting 1 to 3 hours, occasionally longer. The pain was localized around and behind the right eye. The pain intensity was excruciating and the pain quality pulsatile. Ipsilateral lacrimation, conjunctival injection, and prominence of the temporal artery accompanied these attacks. During the attacks, the patient reported a sense of restlessness. Alcohol consumption and physical activity provoked attacks. No recent major trauma was identified. In his personal history, the patient had had tension-type headache and mainly left-sided migraine-like headache attacks for many years. The latter were of a hammering quality, irradiating from the occipital to the frontal region, and accompanied by nausea, photophobia, and phonophobia. In comparison, the new onset current attacks clearly differed from the previous attacks in terms of location, pain quality, intensity, frequency, duration, and attendant symptoms. Ancillary diagnoses included arterial hypertension, treated with amlodipine, and α-1 antitrypsin deficiency. Family history revealed a twin brother, who died of aneurysmal subarachnoid hemorrhage 6 years previously. Several relatives had migraine. On clinical examination, reduced width of the palpebral fissure on the right side compared to the left (ptosis), right miosis, and anhidrosis of the forehead (figure 1, A and B) were noticed. These findings persisted during the pain-free interval. Figure 1 Complete right Horner triad (A) Right eye “ptosis” (or, more correct, reduced width of the palpebral fissure on the right side compared to the left) and miosis. (B) Right forehead anhidrosis, visualized using ponceau dye. ### Questions for consideration: 1. How would you classify these new onset headache attacks? 2. Are there any atypical features or red flags pointing to a secondary headache? GO TO SECTION 2 At first glance, the patient's complaints and clinical findings match the criteria of the International …

The affective and cognitive empathic nature of the dark triad of personality

The dark triad represents the most prominent, socially aversive personalities (viz., Psychopathy, Narcissism, and Machiavellianism) characterised by a common underlying deficit in empathy. Although, evidence shows that empathy can be further divided into cognitive and affective systems, this two-dimensional conceptualisation had not been considered when examining the empathic impairments of the complete dark triad. The present study aimed to determine whether the dark triad is associated with deficits in cognitive or affective empathy as measured through self-reports and facial expressions tasks. The sample comprised 139 university students. All dark triad personalities were associated with deficits in affective empathy, but showed little evidence of impairment in cognitive empathy. The facial expression tasks provided further support for the affective nature of the dark triad’s empathic deficits. Finally, the results emphasised the importance of primary psychopathy, as the main predictor of empathic deficits within the dark triad.

Secondary normal pressure hydrocephalus in a patient with isolated frontal dilatation—an insight into pathophysiology?

Current theories of the pathophysiology of normal pressure hydrocephalus suggest the classical symptoms are a consequence of disruption of normal frontal function. We present the case of a 70-year-old patient with an isolated, frontal dilatation of his lateral ventricles in the presence of a complete triad as supportive of these theories.

A rare cause of anaemia associated with hypertension in a 14-year-old girl

We report a rare example of anaemia and hypertension due to an incomplete Carney triad in a 14-year-old girl with no previous medical history. This rare non-familial syndrome generally involves two disparate tumours: gastrointestinal stromal tumour, paraganglioma and/or pulmonary chondroma. The complete triad is a syndrome that involves at least five loci: stomach, oeophagus, lung, the paraganglionic system, adrenal (cortex or medulla). The pathogenesis is unclear as these tumours have different embryological origins. Surgical treatment is necessary, and long-term follow-up is advisable as patients with Carney triad may re-present with tumour(s), even several years after the first presentation.

Establishing a Complete Drug Information Triad: Academic, Industry, and Hospital Training

Objectives Provide an example to assist other organizations in establishing a unique 1- or 2-year postgraduate residency program in drug information.

Images of a Case of Carney Triad by Combined F-18 FDG PET/CT

Carney triad is a very rare condition with gastrointestinal stromal tumor, pulmonary chondroma, and extra-adrenal paragangliomas. We present the images of a patient with the complete triad, including total gastrectomy for gastrointestinal stromal tumor at the age of 13, and a left pneumonectomy for pulmonary chondroma at the age of 15. Results of F-18 FDG PET/CT that was performed at age of 22 for recurrent pulmonary chondroma also demonstrated new lesions in the neck, mediastinum, and abdomen representing extra-adrenal paragangliomas.

The unusual extended C-terminal helix of the peroxisomal α/β-hydrolase Lpx1 is involved in dimer contacts but dispensable for dimerization

The yeast peroxisomal hydrolase Lpx1 belongs to the α/β-hydrolase superfamily. In the absence of Lpx1, yeast peroxisomes show an aberrant vacuolated morphology similar to what is found in peroxisomal disorder patients. Here, we present the crystal structure of Lpx1 determined at a resolution of 1.9 Å. The structure reveals the complete catalytic triad with an unusual location of the acid residue after strand β6 of the canonical α/β-hydrolase fold. A four-helix cap domain covers the active site. The interface between the α/β-hydrolase core and the cap domain forms the potential substrate binding site, which may also comprise the tunnel that leads into the protein interior and widens into a cavity. Two further tunnels connect the active site to the protein surface, potentially facilitating substrate access. Lpx1 is a homodimer. The α/β-hydrolase core folds of the two protomers form the dimer contact site. Further dimerization contacts arise from the mutual embracement of the cap domain of one protomer by the non-canonical C-terminal helix of the other, resulting in a total buried surface area of some 6000 Ų. The unusual C-terminal helix sticks out from the core fold to which it is connected by an extended flexible loop. We analyzed whether this helix is required for dimerization and for import of the dimer into peroxisomes using biochemical assays in vitro and a microscopy-based interaction assay in mammalian cells. Surprisingly, the C-terminal helix is dispensable for dimerization and dimer import. The unusually robust self-interaction suggests that Lpx1 is imported into peroxisomes as dimer.

Gastrointestinal stromal tumours in children and young adults: A clinicopathologic series with long-term follow-up from the database of the Cooperative Weichteilsarkom Studiengruppe (CWS)

Background Studies on gastrointestinal stromal tumours (GIST) in the paediatric population are limited to case reports or small case series. Patients and methods We conducted a retrospective study to describe the long-term outcome of children and adolescents with GIST registered in the database of the Cooperative Weichteilsarkom Studiengruppe (CWS). Results Sixteen patients (female, n = 11) were identified. Median age at diagnosis was 13.5 years. In four female patients presence of thoracic masses in addition to GIST led to the diagnosis of complete or incomplete Carney triad. Three female patients had metastatic disease at diagnosis, the remaining thirteen GIST were localised. The stomach was the most common primary site of the tumour, followed by the small bowel and colon/abdomen. All patients underwent tumour resection. Receptor tyrosine kinase inhibitors (RTKI) were administered in five patients. With a median follow-up of 96 months all patients are alive, nine of them in first CR. Four female patients developed local or distant recurrence; three of them achieved second CR and one a PR. Two individuals have extensive progressive ( n = 1) or stable ( n = 1) disease. Estimated progression-free survival at 5 years is 0.63 (95%CI: 0.50–0.86). Conclusions Although long-term overall survival is favourable, approximately 30 percent of patients develop disease progression. International cooperation in registration, tissue collection and molecular studies are required to obtain reliable data on the clinical course of these rare tumours in the paediatric population. Biological studies are a prerequisite for initiation of studies with RTKI.

Digital three-dimensional image fusion processes for planning and evaluating orthodontics and orthognathic surgery. A systematic review

The three important tissue groups in orthognathic surgery (facial soft tissues, facial skeleton and dentition) can be referred to as a triad. This triad plays a decisive role in planning orthognathic surgery. Technological developments have led to the development of different three-dimensional (3D) technologies such as multiplanar CT and MRI scanning, 3D photography modalities and surface scanning. An objective method to predict surgical and orthodontic outcome should be established based on the integration of structural (soft tissue envelope, facial skeleton and dentition) and photographic 3D images. None of the craniofacial imaging techniques can capture the complete triad with optimal quality. This can only be achieved by 'image fusion' of different imaging techniques to create a 3D virtual head that can display all triad elements. A systematic search of current literature on image fusion in the craniofacial area was performed. 15 articles were found describing 3D digital image fusion models of two or more different imaging techniques for orthodontics and orthognathic surgery. From these articles it is concluded, that image fusion and especially the 3D virtual head are accurate and realistic tools for documentation, analysis, treatment planning and long term follow up. This may provide an accurate and realistic prediction model.

Complete Currarino Triad Presenting with Diarrhea in a 7-Month-Old Girl

The Currarino triad is a complex genetic disorder characterized by multiple caudal anomalies. Currarino et al first described this syndrome in 1981 as a sacral bony defect, presacral mass, and an anorectal malformation. Patients with this disorder usually present with constipation and characteristic radiological findings. Early diagnosis is vital for improving patient prognosis and quality of life. We report a case of complete Currarino triad in a 7-month-old girl with an unusual presentation of diarrhea, who was later found to have an imperforate anus with rectoperianal fistula, a presacral lipomyelomeningocele, and sacral hypoplasia.

Incidence of hypertrophic pulmonary osteoarthropathy associated with primary lung cancer

Although the association of hypertrophic pulmonary osteoarthropathy (HPO) with lung cancer was investigated in the 1960s, the recent incidence of clinically apparent HPO is not known. Data from a large series of patients with lung cancer were analysed, in order to assess the incidence of possible HPO, based on bone scintigraphy, as well as the incidence of clinically confirmed HPO. The clinical features of confirmed HPO were also evaluated. The medical records of patients admitted with lung cancer between January 1986 and August 2004 were reviewed. Bone scintigraphy showing symmetrical, abnormally high uptake in joints and/or long bones was considered to be suggestive of HPO. Patients who also had finger clubbing and joint pain were considered to have a confirmed diagnosis of HPO. Clinical histories and hormone levels were then investigated in these patients, to identify possible causal factors. Among the 1226 lung cancer patients, 55 (4.5%) demonstrated abnormally high uptake on bone scintigraphy, suggesting possible HPO. Ten (0.8%) patients had clubbed fingers and joint pain and were eventually confirmed as having HPO. Serum hormone concentrations were abnormally high in the patients with confirmed HPO. This retrospective study indicated that 4.5% of lung cancer patients showed findings suggestive of HPO, a frequency similar to that reported previously. However, patients with HPO rarely showed the complete triad of signs. Although increased hormone concentrations may have caused the HPO, further investigation is required to confirm this.

Melkersson-Rosenthal syndrome and its variants- The Mayo Clinic experience

RATIONALE: Melkersson-Rosenthal syndrome, granulomatous cheilitis, and orofacial granulomatosis are conditions in which patients develop swelling of different parts of the face secondary to non-caseating granulomas. We examined the clinical presentation, therapeutic intervention, and coexisting disorders in those patients. METHODS: The Mayo Clinic database was reviewed for the diagnoses of Melkersson-Rosenthal syndrome, granulomatous cheilitis or orofacial granulomatosis between 1976 and 2009. We reviewed the clinical presentation, laboratory studies and treatment regimens. RESULTS: There were a total of 72 patients who presented with focal facial swelling and had area- specific biopsies that showed non- caseating granulomas consistent with Melkersson-Rosenthal syndrome. There were 51 females and 21 males with a median age of 39 years (range 8 to79 years). The complete triad of Melkersson- Rosenthal Syndrome, which includes orofacial edema, intermittent facial palsy and lingua plicata, was present in seven patients (10%). Orofacial edema was present in all the patients with the lips being the most common area affected (74%). Lingua plicata and facial palsy were present in 47% and 10% of the patients, respectively. Crohn's disease was present in 8% of the patients. None of the patients had sarcoidosis. Two patients had systemic lupus. Only two of the fourteen patients had improvement with antihistamines. About half of those who received oral steroids (n= 25) and about 70% of those who received intralesional steroids (n= 17) had an improvement. Other successful therapies included dapsone, minocycline, or metronidazole. Two patients had cheiloplasty. CONCLUSIONS: In patients with Melkersson-Rosenthal syndrome, oral or intralesional steroids are a management option.

Wildervanck syndrome associated with cleft palate and short stature

We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane retraction syndrome and deafness. Since the first case was reported in 1952, there have been more reports describing this triad, either complete or incomplete. Our patient had the complete triad of the syndrome along with cleft palate and short stature. Also, a review of the literature regarding this syndrome is presented here.

Melkerson Rosenthal Syndrome – A Case Report

Melkersson-Rosenthal Syndrome (MRS) is a rare syndrome consisting of a triad of persistent/ relapsing facial palsy, recurrent orofacial edema and fissured tongue. The syndrome does not manifest in complete triad at all times and diagnosis is often difficult. We present a case of a 40-year-old male with a complete triad of all the manifestation of this syndrome. This case highlights the need to consider MRS as one of the differential diagnosis of recurrent facial palsy and also stressing the importance of a thorough intraoral examination when patients presents with relapsing facial palsy.

A prospective study of cerebral blood flow and cerebrovascular reactivity to acetazolamide in 162 patients with idiopathic normal-pressure hydrocephalus

Cerebral blood flow (CBF) and cerebrovascular reactivity (CVR) to acetazolamide were investigated prospectively in 162 patients with a proposed diagnosis of idiopathic normal-pressure hydrocephalus (NPH). The aim of this study was to assess the usefulness of the measurement of CBF and CVR in determining which patients would be likely to benefit from shunt placement. The mean CBF of the whole brain was measured according to the Patlak plot method by using technetium-99m hexamethylpropyleneamine oxime. The CVR value was obtained from the response to administration of 500 mg acetazolamide and calculated as the percentage change from the baseline mean CBF value. One hundred forty-six patients (90.1%) responded to shunt placement ("responders"), but 16 patients (9.9%) did not ("nonresponders"). No significant difference in preoperative CBF was observed between responders and nonresponders. Preoperative CVR was significantly impaired (p<0.0025) in responders compared with healthy controls, but not in nonresponders. Responders with the incomplete triad had a significant reduction (p<0.001) in preoperative CVR, but not in preoperative CBF, compared with healthy controls. Responders with the complete triad had significantly lower preoperative CBF and CVR than those with the incomplete triad (p<0.01 and p<0.05, respectively). Postoperative CBF and CVR increased significantly (p<0.025 and p<0.001, respectively) in responders. Both CBF and CVR decrease with the development of NPH, suggesting that hemodynamic ischemia may be responsible for manifestation of the symptoms. Impaired CVR and reduced CBF with the development of symptoms can be proposed as diagnostic criteria for idiopathic NPH.