TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings

2020 ◽  
Vol 30 (1) ◽  
pp. 22-26
Author(s):  
Florencia Bevilacqua ◽  
Guillermo Alberto ◽  
Santiago Pablo Duarte ◽  
Marina Serra ◽  
Julieta Basterra ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Clinical Findings

Corneal cross-linking for treatment of progressive keratoconus in a patient with Alport syndrome: A case report

2021 ◽  
pp. 112067212199767
Author(s):  
Iva Krolo ◽  
Aida Kasumović ◽  
Ivana Radman ◽  
Pavao Pavić
Keyword(s):  
Case Report ◽  
Alport Syndrome ◽  
Contact Lenses ◽  
Corneal Dystrophy ◽  
Clinical Findings ◽  
Cross Linking ◽  
Posterior Polymorphous Corneal Dystrophy ◽  
One Year ◽  
Corneal Tomography

Purpose: Ocular features of Alport syndrome include anterior lenticonus, posterior polymorphous corneal dystrophy, and fleck-and-dot retinopathy in most cases. Keratoconus in such patients has been rarely mentioned in previous studies. To our knowledge, this is the first report of corneal cross-linking for halting the progression of keratoconus in a patient with Alport syndrome. Case report: A 22-year-old male was referred for his initial corneal topography, after he was already prescribed with rigid gas-permeable contact lenses. Alport syndrome was diagnosed in his infancy and gene COL4A5 mutation was confirmed. Ophthalmological evaluation confirmed keratoconus. One-year follow-up showed a progression on his right eye and standard corneal cross-linking was performed. Stabilization of the disease marked by normalization in visual function and corneal tomography values was noticed 1 year after the procedure. Conclusions: When diagnosing ocular clinical findings of Alport syndrome, keratoconus should be considered. Standard corneal cross-linking protocol can halt its progression.

scholarly journals A Case Report on Frontal Osteoma

Pulse ◽  
2017 ◽  
Vol 9 (1) ◽  
pp. 45-48
Author(s):  
MR Molla ◽  
F Ferdousi ◽  
DR Shankar ◽  
AKMB Karim
Keyword(s):  
Case Report ◽  
Frontal Lobe ◽  
Frontal Sinus ◽  
Clinical Findings ◽  
Complete Excision ◽  
Tumor Mass ◽  
The Right ◽  
Orbital Region

A 13 years old boy admitted with the complaint of progressive exophthalmos and gradually decreasing vision on right eye, also occasional headache and deformity on the right fronto-orbital region. Radiological & clinical findings revealed a case of frontal osteoma in the right frontal sinus extending up to right frontal lobe, eroding right roof of the orbit. Complete excision of the tumor mass was possible surgically. Biopsy confirmed a case of osteoma. Below is a discussion on diagnosis & management of frontal osteomaPulse Vol.9 January-December 2016 p.45-48

scholarly journals An incidental case of biliary fascioliasis with subtle clinical findings: US and MRCP findings

2013 ◽  
Vol 47 (2) ◽  
pp. 125-127
Author(s):  
Hakan Önder ◽  
Faysal Ekici ◽  
Emin Adin ◽  
Suzan Kuday ◽  
Hatice Gümüş ◽  
...  
Keyword(s):  
Case Report ◽  
Bile Duct ◽  
Magnetic Resonance ◽  
Biliary Obstruction ◽  
Fasciola Hepatica ◽  
Magnetic Resonance Cholangiopancreatography ◽  
Clinical Findings ◽  
Imaging Studies ◽  
Laboratory Findings ◽  
Acoustic Shadow

Background. Fascioliasis is a disease caused by the trematode Fasciola hepatica. Cholangitis is a common clinical manifestation. Although fascioliasis may show various radiological and clinical features, cases without biliary dilatation are rare. Case report. We present unique ultrasound (US) and magnetic resonance cholangiopancreatography (MRCP) findings of a biliary fascioliasis case which doesn’t have biliary obstruction or cholestasis. Radiologically, curvilinear parasites compatible with juvenile and mature Fasciola hepatica within the gallbladder and common bile duct were found. The parasites appear as bright echogenic structures with no acoustic shadow on US and hypo-intense curvilinear lesions on T2 weighted MRCP images. Conclusions. Imaging studies may significantly contribute to the diagnosis of patients with subtle clinical and laboratory findings, particularly in endemic regions.

scholarly journals Fatal Subacute Hepatic Failure in a Patient with AA-Type Amyloidosis: Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Ibrahim Altraif ◽  
Fayaz A. Handoo ◽  
Khaled O. Alsaad ◽  
Adel Gublan
Keyword(s):  
Alkaline Phosphatase ◽  
Case Report ◽  
Hepatic Failure ◽  
Clinical Presentation ◽  
Clinical Course ◽  
Clinical Findings ◽  
Systemic Amyloidosis ◽  
Hepatic Involvement ◽  
Reactive Amyloidosis ◽  
Hepatic Amyloidosis

Although systemic amyloidosis of amyloid-associated protein (AA) type (secondary or reactive amyloidosis) frequently involves the liver, it rarely causes clinically apparent liver disease. Mild elevation of alkaline phosphatase and hepatomegaly are the most common biochemical and clinical findings, respectively. We report a case of systemic amyloidosis of AA type, which clinically presented as subacute hepatic failure and resulted in a fatal clinical course in a 69-year-old man. To the best of our knowledge, this is the fifth case of hepatic amyloidosis of AA type that clinically presented as fatal subacute hepatic failure, an unusual clinical presentation for hepatic involvement by systemic AA-type amyloid.

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

2016 ◽  
Vol 173 (3) ◽  
pp. 638-646 ◽  
Author(s):  
Arianna Tucci ◽  
Lidia Pezzani ◽  
Giulietta Scuvera ◽  
Luisa Ronzoni ◽  
Elisa Scola ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Cutis Verticis Gyrata

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

scholarly journals Pitt–Hopkins syndrome with electrical stat us epileptic us in slo w-wave sleep: a case report

2019 ◽  
Vol 14 (2) ◽  
pp. 42-48
Author(s):  
N. G. Lyukshina
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Neuronal Differentiation ◽  
Clinical Case ◽  
Genetic Disorder ◽  
Facial Dysmorphism ◽  
Autistic Behavior ◽  
Rare Genetic Disorder ◽  
Molecular Variant

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

scholarly journals Acute kidney injury due to multiple wasp stings: a case report

2021 ◽  
Vol 61 (2) ◽  
pp. 115-8
Author(s):  
Tahmina Khandkar ◽  
Amina Akter ◽  
Asaduzzaman Asaduzzaman ◽  
Ranjit Ranjan Roy ◽  
Golam Muinuddin
Keyword(s):  
Acute Kidney Injury ◽  
Case Report ◽  
Mortality Rate ◽  
Early Treatment ◽  
Treatment Protocol ◽  
Kidney Injury ◽  
Clinical Findings ◽  
Wasp Venom ◽  
Systemic Reactions ◽  
Wasp Stings

The skin is the most commonly affected organ. Wasp venom causes both local and systemic reactions, but acute kidney injury (AKI) is the most serious complication, with a 20% mortality rate. Acute kidney injury can occur from single or multiple stings. Diagnosis depends on history, clinical findings, and investigations. Treatment protocol is same as other causes of AKI, including dialysis, and prognosis is good with early treatment.

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