Ataxia-telangiectasia and combined hepatocellular-cholangiocarcinoma: A case report

2021 ◽  
Author(s):  
Tej Pratap Singh ◽  
Shraddha Patkar ◽  
Mahesh Goel ◽  
Munita Bal
Keyword(s):  
Case Report ◽  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Liver Function Tests ◽  
Radiation Sensitivity ◽  
Pulmonary Infections ◽  
Chemotherapy Dose ◽  
Combined Hepatocellular Cholangiocarcinoma ◽  
Rare Autosomal Recessive Disease

Abstract Ataxia telangiectasia (A-T) is a rare autosomal recessive disease characterized by ataxia, cutaneous and ocular telangiectasia, impaired immunity with susceptibility to sino-pulmonary infections, radiation sensitivity and cancers particularly of haemato-lymphoid origin. Liver function tests abnormalities and elevated alfa feto-protein have been reported in A-T however there is no reported case of combined hepatocellular-cholangiocarcinoma (cHCC-CC) in literature. These tumours should be treated in similar fashion as in general population however reduction of chemotherapy dose might be helpful in decreasing chemo-toxicity.

scholarly journals Case report of tufting-enteropathy: course of the disease, complexity of morphological diagnosis

2020 ◽  
Vol 9 (4) ◽  
pp. 65-70
Author(s):  
T.A. Garkusha ◽  
◽  
S.V. Gappoev ◽  
V.A. Khorzhevskii ◽  
L.G. Levkovich ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Cell Adhesion ◽  
Case Report ◽  
Cell Adhesion Molecule ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Autosomal Recessive Disease ◽  
Ultrastructural Level ◽  
Morphological Diagnosis ◽  
Rare Autosomal Recessive Disease

Tufting enteropathy (TE) is a rare autosomal recessive disease characterized by diarrhea starting in the neo-natal period. This disease was first described in 1994 by Reifen R.M. et al. The disease is caused by muta-tions in the cell adhesion molecule EpCAM. TE is characterized by alterations in the intestinal epithelium: surface enterocytes are primarily affected, and they form tufts. At the ultrastructural level, this disease is characterized by an increase in the length and number of desmosomes. This paper presents a clinical case of TE in a 3-month-old boy who was diagnosed based on clinical and morphological, electron microscopy findings. Diarrheal syndrome developed in the patient from the second day of life and persisted regardless of enteral nutrition and led to severe exsicosis. Keywords: tufting enteropathy, diarrhea, desmosome, enterocyte, microvilli

scholarly journals Acrodermatitis Enteropathica: A Case Report

2020 ◽  
Vol 35 (6) ◽  
pp. e201-e201
Author(s):  
Asma Al Naamani ◽  
Tuqa Al Lawati
Keyword(s):  
Case Report ◽  
Clinical Diagnosis ◽  
Zinc Deficiency ◽  
Clinical Manifestation ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Skin Lesions ◽  
Genetic Mutation ◽  
Acrodermatitis Enteropathica ◽  
Rare Autosomal Recessive Disease

Acrodermatitis enteropathica is a rare autosomal recessive disease caused by a genetic mutation leading to zinc deficiency. Clinical manifestation includes skin lesions, diarrhea, and alopecia. We report the case of a two-month-old girl, admitted with erythematous scaly lesions in the neck and vesiculopustular lesions in the perioral region, associated with alopecia and diarrhea. Clinical diagnosis of the disease was made from her first presentation. She was started on zinc therapy and her lesions resolved entirely after one month of treatment.

scholarly journals Rab27a

2001 ◽  
Vol 152 (4) ◽  
pp. 843-850 ◽  
Author(s):  
Philippe Bahadoran ◽  
Edith Aberdam ◽  
Frédéric Mantoux ◽  
Roser Buscà ◽  
Karine Bille ◽  
...  
Keyword(s):  
Immune Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Vesicle Transport ◽  
Myosin V ◽  
Griscelli Syndrome ◽  
V Gene ◽  
Rare Autosomal Recessive Disease ◽  
Phenotypic Reversion

Normal pigmentation depends on the uniform distribution of melanin-containing vesicles, the melanosomes, in the epidermis. Griscelli syndrome (GS) is a rare autosomal recessive disease, characterized by an immune deficiency and a partial albinism that has been ascribed to an abnormal melanosome distribution. GS maps to 15q21 and was first associated with mutations in the myosin-V gene. However, it was demonstrated recently that GS can also be caused by a mutation in the Rab27a gene. These observations prompted us to investigate the role of Rab27a in melanosome transport. Using immunofluorescence and immunoelectron microscopy studies, we show that in normal melanocytes Rab27a colocalizes with melanosomes. In melanocytes isolated from a patient with GS, we show an abnormal melanosome distribution and a lack of Rab27a expression. Finally, reexpression of Rab27a in GS melanocytes restored melanosome transport to dendrite tips, leading to a phenotypic reversion of the diseased cells. These results identify Rab27a as a key component of vesicle transport machinery in melanocytes.

scholarly journals Acitretin Treatment for Lipoid Proteinosis

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Özgür Gündüz ◽  
Neriman Şahiner ◽  
Pınar Atasoy ◽  
Çağrı Şenyücel
Keyword(s):  
Respiratory Tract ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Importance ◽  
Histological Evaluation ◽  
Upper Respiratory Tract ◽  
Cutaneous Lesions ◽  
Lipoid Proteinosis ◽  
Upper Respiratory ◽  
Rare Autosomal Recessive Disease

Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. Yellow-white plaques can be seen on oral mucosa and on the skin among depressed scars. Histological evaluation of the affected sites shows accumulation of hyaline-like material in dermis and disruption of basement membrane. Although LP is compatible with normal life expectancy, involvement of upper respiratory tract may endanger patient's life, especially in the case of a respiratory tract infection. Involvement of central nervous system has also been reported, but its clinical importance is obscure. Due to the rarity of LP, a definite therapeutical approach is not established. In this paper we describe a 21-year-old LP patient who was treated with acitretin for six months. Although the outcome with cutaneous lesions was not satisfactory, her hoarseness was significantly improved.

Rapid and Easy Diagnosis of Netherton Syndrome with Dermoscopy

2014 ◽  
Vol 18 (4) ◽  
pp. 280-282 ◽  
Author(s):  
Zeynep Meltem Akkurt ◽  
Tuba Tuncel ◽  
Erhan Ayhan ◽  
Derya Uçmak ◽  
Ünal Uluca ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Hair Shaft ◽  
Netherton Syndrome ◽  
Ichthyosis Linearis Circumflexa ◽  
Rare Autosomal Recessive Disease

Background: Netherton syndrome is a rare autosomal recessive disease demonstrating ichthyosis linearis circumflexa, atopic findings, and hair shaft anomalies. Trichorrhexis invaginata is the pathognomonic hair shaft anomaly seen in this syndrome. Objective: In recent years, hair shaft anomalies have been described as “matchstick” and “golf tee” signs. We present a patient with Netherton syndrome diagnosed by the presence of matchstick and golf tee hairs in addition to trichorrhexis invaginata.

scholarly journals Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: The first four patients in Serbia

2010 ◽  
Vol 138 (5-6) ◽  
pp. 351-355 ◽  
Author(s):  
Amira Peco-Antic ◽  
Martin Konrad ◽  
Gordana Milosevski-Lomic ◽  
Nikola Dimitrijevic
Keyword(s):  
Renal Failure ◽  
Secondary School ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Index Case ◽  
Serum Magnesium ◽  
Magnesium Supplementation ◽  
Moderate Renal Failure ◽  
Severe Growth ◽  
Rare Autosomal Recessive Disease

Introduction Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disease characterized by excessive renal magnesium and calcium wasting, bilateral nehrocalcinosis and progressive renal failure. This is the first report of FHHNC of four patients in Serbia. Outline of Cases The first three patients were siblings from the same family. The index case, a 9-yearold girl, presented with severe growth retardation, polyuria and polydipsia, while her brothers, 11 and 7 years old, were disclosed during family member screening. The father had a urolithiasis when aged 18 years, while intermittent microhaematuria and bilateral microlithiasis persisted later on. The fourth patient, a 16-year-old boy with sporadic FHHNC was discovered to have increased proteinuria at routine examination of urine before registration for secondary school. He was well grown up, normotensive, but had moderate renal failure (CKD 3 stage), mild hypomagnesaemia and severe hypercalciuria and nephrocalcinosis. Beside typical clinical and biochemical data, the diagnosis of FHHNC was confirmed by mutation analysis of the CLDN16 gene; in all four affected individuals a homozygous CLDN16 mutation (Leu151Phe) was found. Treatment with magnesium supplementation resulted in the normalization of serum magnesium levels only in one patient (patient 4), but hypercalciuria persisted and renal failure progressed in all patients. Conclusion FHHNC is a rare cause of chronic renal failure. The first four patients with FHHNC in Serbia have been here described. The diagnosis of FHNNC based on the findings of nephrocalcinosis with hypomagnesiaemia and hypercalciuria, was confirmed by homozygous paracellin1-mutation exhibiting a Leu151Phe. .

scholarly journals Infantile Sandhoff's disease

2009 ◽  
Vol 13 (3) ◽  
pp. 66 ◽  
Author(s):  
K Sass ◽  
S Wiebe ◽  
E Lemire
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Radiological Features ◽  
Rare Autosomal Recessive Disease ◽  
Case Based

Case based review of the rare autosomal recessive disease. Clinical and Radiological features described in detail.

CONGENITAL AFIBRINOGENAEMIA: DIAGNOSIS, CLINICAL FEATURES, FOLLOW-UP STUDY

1987 ◽  
Author(s):  
A M JakloyazAy ◽  
Oa H dnagy
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Renal Calculi ◽  
Bleeding Tendency ◽  
Fresh Blood ◽  
Severe Injuries ◽  
Surgical Interventions ◽  
Follow Up Study ◽  
Rare Autosomal Recessive Disease

Authors followed 6 cases of congenital afibrinogenae- mia (CA) by offsprings of two apparently unrelated families from the same village. The sex ratio was4.m/3.f. CA is a rare autosomal recessive disease. Controlling 76 family members authors detected 11 cases of moderate and 2 cases of severe hypofibrinogeneemia.Among them-without any bleeding tendency-the mother of one case and both parents of two siblings with CA*The lack of fibrinogen was confirmed biochemically and immunologically too. The only symptom ofthe Illness are the severe posttraumatic bleeding. They appear as epistax- is, bleeding of the gums, or anyother bleeding aiter minor or severe injuries*Intraarticular bleeding, as in haemophilia rarely occurs inCA. One of our patients had profuse haematurias, causedby renal calculi. The only therapy is the substitution with transfusions of fresh blood, plasma, or fibrinogen concentrates*The rise of posttransfusional lllnisses grows with the number of transfusions*Stomatological or surgical interventions could be performed only after correction of the dotting abnormalitySo, one of our patients was submitted to splenectomyfor spontaneous rupture at 12 years and to nephrectomy for severe pyelo-caliceal cal- culosis with 19.He recovered fully after both interventions but died at 21 years after a bicycle accidenti The five other patients deceased at the age of 5«resp. 10 months and at 6-lo-resp 12 years. In 3 cases there was a subdural hammorrhage, once an intracranial blee- dingCnon autopsiated)and once a severe intraabdoml- nal haemorrhage after an accidental traumatism of the abdominal wall. The care of the CA cases is mostly a pediatric proble. The frequency of the pottraumatic bleeding decrease with the growth*The schoolchildren are paying more attention to avoid injuries

scholarly journals Ellis van Creveld syndrome: An unusual presentation at birth

2022 ◽  
pp. 538-540
Author(s):  
Vidisha Singh ◽  
Alka Agrawal ◽  
Kailash Chandra Aggarwal
Keyword(s):  
Autosomal Recessive ◽  
Indian Population ◽  
Neonatal Period ◽  
Autosomal Recessive Disease ◽  
Heart Defects ◽  
Consanguineous Marriage ◽  
The World ◽  
Single Atrium ◽  
Ellis Van Creveld Syndrome ◽  
Rare Autosomal Recessive Disease

Ellis Van Creveld, a syndrome comprising of chondrodysplasia, bilateral polydactyly of the hands with skeletal abnormalities, and congenital heart defect is a rare autosomal recessive disease. The prevalence of the disease in the world is 1/6000–20,000 newborns. In the Indian population, it is difficult to estimate the exact prevalence of the disease but, it is mostly seen in the Amish population. The cardinal features are short stature, dysplastic nails and teeth, polydactyly, narrow chest, and heart defects. The crucial differentials are Jeune dystrophy, Weyers syndrome, and McKusick-Kaufman syndrome. Here, we report a neonate, born of a non-consanguineous marriage with a syndromic appearance consisting of a bell-shaped chest, polydactyly, natal teeth, and single atrium. Prognosis is related to respiratory and heart defects in the early neonatal period.

scholarly journals Case report - Ataxia-telangiectasia: innate error of immunity and neurological aspects

2021 ◽  
Author(s):  
Tarcisio Rubens da Silva ◽  
Marina Monteiro Navarro ◽  
Mylena Mendes Hóstio ◽  
Catherine Sonaly Ferreira Martins
Keyword(s):  
Case Report ◽  
Ataxia Telangiectasia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Cerebellar Degeneration ◽  
Combined Immunodeficiency ◽  
Recurrent Pneumonia ◽  
Swallowing Problems ◽  
Atm Gene ◽  
Low Levels

Introduction: Among more than 350 immunological deficiencies, 25% have neurological manifestations. Thus, Ataxia-telangiectasia stands out, being considered a combined immunodeficiency. In childhood, cerebellar motor findings and recurrent sinopulmonary infections, signaling early cerebellar degeneration and deficit in the combined immune response. It has an autosomal recessive inheritance pattern. Case report: She describes herself as a female patient, 9 years old, daughter of consanguineous parents and born in Sousa, Paraíba. In the child’s neuropsychomotor development, she sat down at 5 months, verbalized loose words at 12 months and started the process of ambulation at 13 months of life. While walking, the mother noticed strange walking and frequent hospitalizations due to recurrent pneumonia. From 7 years of age, there is worsening of gait and telangiectasias in the conjunctiva are evident. Subsequently, the molecular examination in order to demonstrate the possible mutation. Therefore, a mutation described as c.7913G> A (p.Trp2638 *) was found in homozygosity in exon 53 of the ATM gene. Findings: typical onset of early childhood when walking, swallowing problems with solid and liquid foods and the growth disorder. Regarding the immune system: low levels of immunoglobulins, but without lymphopenia and the worrying presence of adenomegaly, making it necessary to always pay attention to neoplasms such as leukemias and lymphomas. In disagreement, there are no: myoclonus, the highest IgM levels, cutaneous granulomas and bone deformities. Conclusions: The case presents aspects that are very consistent with the scientific findings consolidated in Ataxia-telangiectasia, but the late molecular diagnosis.

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