Allgrove Syndrome - Explore the Science & Experts | ideXlab

Scan Science and Technology

Contact Leading Edge Experts & Companies

Allgrove Syndrome

The Experts below are selected from a list of 525 Experts worldwide ranked by ideXlab platform

Allgrove Syndrome – Free Register to Access Experts & Abstracts

Angela Huebner – One of the best experts on this subject based on the ideXlab platform.

  • “Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) Syndrome: two case reports
    BMC Pediatrics, 2018
    Co-Authors: Daniel Tibussek, Angela Huebner, Sujal Ghosh, Joerg Schaper, Ertan Mayatepek, Katrin Koehler
    Abstract:

    Background Triple A Syndrome (or Allgrove Syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A Syndrome illustrating the importance of alacrima as an early clinical sign. Case presentation A 3.5 year old girl presented with repeated hypoglycaemic myoclonic events. Adrenal insufficiency was diagnosed. In addition, alacrima, obvious since early infancy, was incidentally reported by the mother and finally lead to the clinical diagnosis of triple A Syndrome. This was confirmed by positive mutation analysis of the AAAS gene. The second patient, an 8 months old boy was presented because of anisocoria and unilateral optic atrophy. MRI revealed cerebellar vermis hypotrophy. Psychomotor retaretardation, failure to thrive, and frequent vomiting lead to further diagnostic work-up. Achalasia was diagnosed radiologically. In addition, the mother mentioned absence of tears since birth leading to the clinical diagnosis of triple A Syndrome. In contrast to the first cases genetic testing was negative. Conclusion These two patients illustrate the heterogeneity of triple A Syndrome in both terms, clinical expression and genetic testing. We particularly aim to stress the importance of alacrima, which should be considered as a red flag symptom. Further differential diagnosis is required in every child affected by alacrima.

  • “Crying without tears” as an early diagnostic sign-post of triple A (Allgrove) Syndrome: two case reports.
    BMC pediatrics, 2018
    Co-Authors: Daniel Tibussek, Angela Huebner, Sujal Ghosh, Joerg Schaper, Ertan Mayatepek, Katrin Koehler
    Abstract:

    Triple A Syndrome (or Allgrove Syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are caused by mutations in the AAAS gene located on chromosome 12q13. However, the clinical picture as well as genetic testing may be complex since symptomatology is variable and mutations cannot be identified in all clinically diagnosed patients. We present two unrelated patients with triple-A Syndrome illustrating the importance of alacrima as an early clinical sign. A 3.5 year old girl presented with repeated hypoglycaemic myoclonic events. Adrenal insufficiency was diagnosed. In addition, alacrima, obvious since early infancy, was incidentally reported by the mother and finally lead to the clinical diagnosis of triple A Syndrome. This was confirmed by positive mutation analysis of the AAAS gene. The second patient, an 8 months old boy was presented because of anisocoria and unilateral optic atrophy. MRI revealed cerebellar vermis hypotrophy. Psychomotor retaretardation, failure to thrive, and frequent vomiting lead to further diagnostic work-up. Achalasia was diagnosed radiologically. In addition, the mother mentioned absence of tears since birth leading to the clinical diagnosis of triple A Syndrome. In contrast to the first cases genetic testing was negative. These two patients illustrate the heterogeneity of triple A Syndrome in both terms, clinical expression and genetic testing. We particularly aim to stress the importance of alacrima, which should be considered as a red flag symptom. Further differential diagnosis is required in every child affected by alacrima.

  • Novel Mutations in a Patient with Triple A Syndrome.
    Indian pediatrics, 2015
    Co-Authors: Jyoti Sanghvi, Ajit Anand Asati, Ravindra Kumar, Angela Huebner
    Abstract:

    Background Triple A Syndrome (Allgrove Syndrome), a rare autosomal recessive disorder, is characterized by adrenal insufficiency, achalasia cardia and alacrimia. It is caused by mutations in AAAS gene which encodes a protein called ALADIN.

Fakhri Kallabi – One of the best experts on this subject based on the ideXlab platform.

N. Mouane – One of the best experts on this subject based on the ideXlab platform.

  • Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove Syndrome: a case report
    BMC Pediatrics, 2018
    Co-Authors: H. Berrani, T. Meskini, M. Zerkaoui, H. Merhni, S. Ettair, A. Sefiani, N. Mouane
    Abstract:

    Background Allgrove Syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove Syndrome. Case presentation A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove Syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. Conclusion This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients.

  • Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove Syndrome: a case report
    BMC pediatrics, 2018
    Co-Authors: H. Berrani, T. Meskini, M. Zerkaoui, H. Merhni, S. Ettair, A. Sefiani, N. Mouane
    Abstract:

    Allgrove Syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove Syndrome. A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove Syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients.

  • clinical and molecular report of c 1331 1g a mutation of the aaas gene in a moroccan family with Allgrove Syndrome a case report
    BMC Pediatrics, 2018
    Co-Authors: H. Berrani, T. Meskini, M. Zerkaoui, H. Merhni, S. Ettair, A. Sefiani, N. Mouane
    Abstract:

    Allgrove Syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove Syndrome. A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove Syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients.

H. Berrani – One of the best experts on this subject based on the ideXlab platform.

  • Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove Syndrome: a case report
    BMC Pediatrics, 2018
    Co-Authors: H. Berrani, T. Meskini, M. Zerkaoui, H. Merhni, S. Ettair, A. Sefiani, N. Mouane
    Abstract:

    Background Allgrove Syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove Syndrome. Case presentation A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove Syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. Conclusion This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients.

  • Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove Syndrome: a case report
    BMC pediatrics, 2018
    Co-Authors: H. Berrani, T. Meskini, M. Zerkaoui, H. Merhni, S. Ettair, A. Sefiani, N. Mouane
    Abstract:

    Allgrove Syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove Syndrome. A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove Syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients.

  • clinical and molecular report of c 1331 1g a mutation of the aaas gene in a moroccan family with Allgrove Syndrome a case report
    BMC Pediatrics, 2018
    Co-Authors: H. Berrani, T. Meskini, M. Zerkaoui, H. Merhni, S. Ettair, A. Sefiani, N. Mouane
    Abstract:

    Allgrove Syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove Syndrome. A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove Syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients.

C. Pirro – One of the best experts on this subject based on the ideXlab platform.

  • Triple A Syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.
    Journal of the Neurological Sciences, 2010
    Co-Authors: M Luigetti, Henry Houlden, C. Pirro, A. Pizzuti, S Bartoletti, I Bottillo, F Madia, P A Tonali, Amelia Conte, M Sabatelli
    Abstract:

    Allgrove Syndrome (or triple A Syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/neurological abnormalities. It is caused by mutations in the AAAS gene. located on chromosome 12q13. We describe a 42-year-old patient who presented with neuropathy and was found to have alacrima, achalasia, mild autonomic dysfunction with significant central and peripheral nervous system involvement. She was later diagnosed with oligosymptomatic triple A Syndrome. Sequencing of the AAAS gene identified two heterozygous mutations within exon 14 and its donor splice site (p.L430F – c.1288C>T and c.1331 + 1G>T), one of which is novel. Allgrove Syndrome should be suspected in patients with neurological impairment associated with two or more of the main symptoms (alacrima, achalasia or adrenal insufficiency). (C) 2009 Elsevier B.V. All rights reserved.

  • Triple A Syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency.
    Journal of the neurological sciences, 2010
    Co-Authors: M Luigetti, C. Pirro, A. Conte, A. Pizzuti, S Bartoletti, H Houlden, I Bottillo, F Madia, P A Tonali, M Sabatelli
    Abstract:

    Allgrove Syndrome (or triple A Syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, ACTH-resistant adrenal insufficiency and autonomic/neurological abnormalities. It is caused by mutations in the AAAS gene, located on chromosome 12q13. We describe a 42-year-old patient who presented with neuropathy and was found to have alacrima, achalasia, mild autonomic dysfunction with significant central and peripheral nervous system involvement. She was later diagnosed with oligosymptomatic triple A Syndrome. Sequencing of the AAAS gene identified two heterozygous mutations within exon 14 and its donor splice site (p.L430F-c.1288C>T and c.1331+1G>T), one of which is novel. Allgrove Syndrome should be suspected in patients with neurological impairment associated with two or more of the main symptoms (alacrima, achalasia or adrenal insufficiency).

  • Case report of adult-onset Allgrove Syndrome
    Neurological Sciences, 2007
    Co-Authors: F. Gilio, S. Rezze, A. Conte, V. Frasca, E. Iacovelli, C. Marini Bettolo, M. Gabriele, E. Giacomelli, A. Pizzuti, C. Pirro
    Abstract:

    Allgrove Syndrome is a rare autosomal recessive disorder characterised by childhood onset, alacrima, oesophageal achalasia, adrenocortical insufficiency, neurological and occasionally autonomic involvement. Although the disease has been associated with mutations in the ALADIN gene on chromosome 12q13, it is genetically heterogeneous. The case we report is interesting because of its onset in adulthood, long duration of disease and prominent neurological dysfunctions. After the onset of neurological abnormalities the diagnosis went unrecognised for years until the patient presented for evaluation of dysphagia. The presence of achalasia with dysphagia, adrenal insufficiency, reduced tear production, optic atrophy and peripheral motor-sensory neuropathy with axonal loss led us to clinically diagnose Allgrove Syndrome even though a genetic study showed no mutations in the ALADIN gene exons. The case we report shares many clinical features with Allgrove Syndrome and, even with the limitations of a single case, underlines the variability in this Syndrome and the need for appropriate investigations along with a multidisciplinary approach.