Rare Syndrome
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2021 ◽  
pp. 369-372
Anirban Sen ◽  
Atanu Pal ◽  
Ankit Ankit ◽  
Koushik Bhattacharjee ◽  
Dipankar Sircar ◽  

Galloway-Mowat syndrome is an autosomal recessive rare hereditary disorder with progressively worsening renal function, neurological and psychomotor abnormalities, microcephaly, facial dysmorphism, and thyroid, adrenal, and ovarian hypoplasia/agenesis. Here, we present the case of a 9-year-old girl who presented with late-onset steroid-resistant nephrotic syndrome with rapid worsening of renal function, microcephaly, hypertelorism, high-arched palate, delayed speech and developmental milestones, poor intellectual function, short stature, hypertension, and hypothyroidism. Magnetic resonance imaging brain was suggestive of cerebral and cerebellar atrophy, hypomyelination, and optic atrophy. Renal biopsy was suggestive of focal segmental glomerulosclerosis. Whole-genome exon sequencing revealed a homozygous mutation in the NUP85 gene. The clinicians should be aware of this rare syndrome and consider it as a possibility in any patient presenting with nephrotic syndrome, microcephaly, and neurological abnormality.

Shigeki Yokoyama ◽  
Kanetsugu Nagao ◽  
Akihiko Higashida ◽  
Masaya Aoki ◽  
Shigeyuki Yamashita ◽  

AbstractCarney complex is a rare syndrome caused by a genetic mutation leading to multiple endocrine abnormalities and a variety of tumors. Here, we report a case of Carney complex diagnosed due to recurrent multiple myxomas in the right atrium of a patient 16 years after the resection of the primary left atrial myxoma. Surgical excision was performed for the multiple recurrent right atrial tumors under cardiopulmonary bypass. The patient remained complication-free after surgery and was discharged on the 14th day. He was scheduled to continue echocardiographic follow-up and periodic systemic review by an endocrinologist. This case emphasizes the fact that if cardiac myxomas tend to be multiple and recurrent at a relatively young age, the possibility of Carney complex should be considered, even in the absence of any other related feature other than cardiac tumors.

2021 ◽  
Vol 12 ◽  
Sélim Benjamin Guessoum ◽  
Laelia Benoit ◽  
Sevan Minassian ◽  
Jasmina Mallet ◽  
Marie Rose Moro

Background: Culture can affect psychiatric disorders. Clinical Lycanthropy is a rare syndrome, described since Antiquity, within which the patient has the delusional belief of turning into a wolf. Little is known on its clinical or therapeutic correlates.Methods: We conducted a systematic review (PRISMA) on PubMed and Google Scholar, until January 2021. Case reports, data on neurobiological hypotheses, and cultural aspects were included. Language was not restricted to English.Results: Forty-three cases of clinical lycanthropy and kynanthropy (delusion of dog transformation) were identified. Associated diagnoses were: schizophrenia, psychotic depression, bipolar disorder, and other psychotic disorders. Antipsychotic medication may be an efficient treatment for this rare transnosographic syndrome. In case of depression or mania, the treatment included antidepressants or mood regulators. The neuroscientific hypotheses include the conception of clinical lycanthropy as a cenesthopathy, as a delusional misidentification of the self-syndrome, as impairments of sensory integration, as impairments of the belief evaluation system, and right hemisphere anomalies. Interestingly, there is a clinical overlap between clinical lycanthropy and other delusional misidentification syndromes. Clinical lycanthropy may be a culture-bound syndrome that happens in the context of Western cultures, myths, and stories on werewolves, and today's exposure to these narratives on cultural media such as the internet and the series. We suggest the necessity of a cultural approach for these patients' clinical assessment, and a narrative and patient-centered care.Conclusions: Psychiatric transtheoretical reflections are needed for complementaristic neurobiological and cultural approaches of complex delusional syndromes such as clinical lycanthropy. Future research should include integrative frameworks.

2021 ◽  
Vol 15 (1) ◽  
Maria Pia Riccio ◽  
Giuseppe D’Andrea ◽  
Emilia Sarnataro ◽  
Maria Marino ◽  
Carmela Bravaccio ◽  

Abstract Background Melnick–Needles syndrome and periventricular nodular heterotopia are two usually mutually exclusive phenotypes of F-actin-binding cytoskeletal phosphoprotein Filamin-A mutations. Melnick–Needles syndrome is a rare X-linked condition that is lethal in males and shows great phenotypic variability in affected females. It is caused by mutations in Filamin-A gene, which encodes the protein Filamin A. Defects of the human Filamin-A gene also cause X-linked periventricular nodular heterotopia, a malformation of neuronal migration characterized by nodules of neurons in inappropriate location adjacent to the walls of the lateral ventricles. Case presentation We report on two Caucasian adolescent females, sisters, diagnosed with Melnick–Needles syndrome and bilateral periventricular nodular heterotopia, who developed bipolar disorder and somatic symptoms disorder at a young age. We also present a review of the literature about mental disorders associated with periventricular nodular heterotopia. Our report shows that patients presenting with atypical and heterogeneous psychiatric disease may have an underrecognized anatomical brain abnormality on genetic basis. Conclusions We found records of psychiatric disorders associated with periventricular nodular heterotopia; nevertheless, this is the first report of bipolar disorder occurring in individuals with periventricular nodular heterotopia, and the first report of any psychiatric disorder in individuals affected by Melnick–Needles syndrome. In conclusion, this case report may contribute to characterizing the phenotype of this very rare syndrome.

Diagnostics ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 1832
Irena Wolińska ◽  
Przemysław Jaźwiec ◽  
Maria Pawłowska ◽  
Paweł Gać ◽  
Rafał Poręba ◽  

Eagle syndrome consists of symptoms resulting from the elongation and excessive calcification of the styloid process of the temporal bone and calcification of the ligaments associated with this process. The main symptoms of this syndrome are the feeling of a foreign body in the throat, dysphagia and pain localized in the temporomandibular region, neck and ear. The authors describe the case report of a previously healthy 39-year-old Caucasian male that complained of discomfort and foreign body sensation in his throat. Computed tomography (CT) showed the presence of an elongated styloid process bilaterally with clear predomination at the left side. The patient underwent laryngological and surgical consultation. Due to the lack of symptoms related to the compression of the carotid arteries, no surgery was recommended. In summary, Eagle’s syndrome is a rare condition characterized by craniofacial pain or foreign body sensation that should be considered, especially if the pain is unilateral. CT imaging in his case was a perfect tool and enabled a suitable diagnosis of this rare syndrome.

2021 ◽  
Vol 58 (S1) ◽  
pp. 251-251
G. Berraies ◽  
M. Garci ◽  
S. Armi ◽  
C. Belghith ◽  
T. Makhlouf ◽  

2021 ◽  
Vol 3 (3) ◽  
pp. 22-28
Malaysian Stroke Conference

1. Extended Hours Thrombolysis Guided By DWI-FLAIR Mismatch.2. Carotid Artery Stenting For Radiation Induced Late Carotid Stenosis: A Case Report.3. Cerebral Venous Sinus Thrombosis In Male Gender: A Case Series.4. Effects Of Malaysian Movement Control Order (MCO) 1.0 Following Covid-19 Pandemic On Acute Stroke Service In Seberang Jaya Hospital.5. A Rare Pontine Infarct With Abducens Nerve Palsy, Hyperacusis And Contralateral Hemianaesthesia Mimicking Gasperini Syndrome.6. A Case Report On A Rare Syndrome: Gerstmann Tetrad In A Stroke Patient.7. Oxford Cognitive Screen Malay Version: Validation Of Stroke-Specific Cognitive Screening Test Pilot Study.

2021 ◽  
Vol 11 (1) ◽  
Judit Eszter Szabó ◽  
Kinga Nyíri ◽  
Dániel Andrási ◽  
Judit Matejka ◽  
Olivér Ozahonics ◽  

AbstractRecently it was proposed that the redox status of cysteines acts as a redox switch to regulate both the oligomeric status and the activity of human dUTPase. In a separate report, a human dUTPase point mutation, resulting in a tyrosine to cysteine substitution (Y54C) was identified as the monogenic cause of a rare syndrome associated with diabetes and bone marrow failure. These issues prompt a critical investigation about the potential regulatory role of cysteines in the enzyme. Here we show on the one hand that independently of the redox status of wild-type cysteines, human dUTPase retains its characteristic trimeric assembly and its catalytic activity. On the other hand, the Y54C mutation did not compromise the substrate binding and the catalytic properties of the enzyme at room temperature. The thermal stability of the mutant protein was found to be decreased, which resulted in the loss of 67% of its activity after 90 min incubation at the physiological temperature in contrast to the wild-type enzyme. In addition, the presence or absence of reducing agents had no effect on hDUTY54C activity and stability, although it was confirmed that the introduced cysteine contains a solvent accessible thiol group.

2021 ◽  
pp. 097321792110463
Manasi Gupta ◽  
Kalyan Chakravarthy Konda ◽  
Jayashree Purkayastha ◽  
Edward Lewis Leslie

An outborn term neonate was referred at 12 h of life with multiple congenital anomalies. A baby was born out of consanguineous marriage to a mother with 2 previous abortions. Clinical examination showed features such as bilateral cryptophthalmos, syndactyly involving all limbs, and clitoromegaly suggestive of Fraser syndrome. Ultrasound of the abdomen showed unilateral renal hypoplasia. Echocardiography showed ostium secundum atrial septal defect, small ventricular septal defect, and patent ductus arteriosus. Magnetic resonance imaging of the brain revealed megalencephaly with polygyria. Further evaluation and surgical treatment of cryptophthalmos were advised but could not be done because of socioeconomic constraint, and the neonate was discharged and lost to follow-up. The occurrence of cerebral malformations in Fraser syndrome is highly variable and not very well described in the literature. To the best of our knowledge, association of megalencephaly with this syndrome is being reported for the first time. We also intend to educate the physicians about the antenatal clues associated with this rare syndrome, which could promote antenatal diagnosis and thereby modify the outcome.

Wan Nuraisyah Azzahrah Wan Zuki

Phlegmasia cerulea dolens (PCD) is a rare syndrome caused by venous thrombosis and characterised by a triad of limb oedema, cyanosis and pain. It requires early recognition as delay of treatment can cause gangrene, limb amputation and in extreme cases, death. A 67- year-old Chinese lady, with underlying hypertension, diabetes mellitus and dyslipidaemia presented to the emergency department with a 2 days history of pain, oedema and bluish discoloration over the entire left leg. She had a history of fall 6 months prior and since then she used a walking stick for mobilization. This patient underwent ultrasound doppler left lower limb , which showed features suggestive of long-segment left lower limb deep vein thrombosis. A diagnosis of PCD was made. Subsequently, she went for a CT angiogram and venography of the left lower limb which confirmed thrombosis of the left calf vein extending to the long segment of the left common iliac vein. She was commenced on intravenous heparin infusion and then underwent inferior vena cava filter insertion and catheter directed thrombolysis. Repeat venogram showed successful catheter directed thrombolysis of the left lower limb deep venous thrombosis (DVT). Treatment should be initiated as soon as the diagnosis of PCD is suspected. Currently, guidelines for treatment are lacking however 3 therapeutic options are advocated alone or in combination: anticoagulants, thrombolytic therapy, and venous thrombectomy. An early recognition of PCD and appropriate decision regarding the treatment is essential to preserve the limb.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S16

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