A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns–Sayre syndrome

Tzoufi, Meropi; Makis, Alexandros; Chaliasos, Nikolaos; Nakou, Iliada; Siomou, Ekaterini; Tsatsoulis, Agathoklis; Zikou, Anastasia; Argyropoulou, Maria I.; Bonnefont, Jean‐Paul; Siamopoulou, Antigoni

doi:10.1007/s00431-012-1798-1

Cited by 31 publications

(30 citation statements)

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“…In an 11-year-old female with KSS, TDFS was diagnosed 8 years prior to the diagnosis of the MID (15). TDFS was also reported in a 13-year-old female with KSS who additionally manifested with anhidrosis (26), as well as other patients (14,(27)(28)(29)(30)(31). In a 5-year-old male with KSS, the MID manifested with RTA (Table II) (32), which was also described in an 18-year-old female (Table II) (33).…”

Section: Resultsmentioning

confidence: 85%

Renal manifestations of primary mitochondrial disorders

Finsterer

Scorza

2017

Biomedical Reports

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Section: Resultsmentioning

confidence: 85%

Renal manifestations of primary mitochondrial disorders

Finsterer

Scorza

2017

Biomedical Reports

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“…The diagnosis is made through the observation of a triad: progressive external ophthalmoplegia, pigmentary retinopathy and CCD. The first signs and characteristics of the syndrome usually appear before 20 years of age, as observed in the literature (3,6,7,8,9,10) . In addition, it is possible to perform the genetic test, mainly seeking information related to DNAm, where multiple deletions or mutations are found, in cases of KS syndrome (11,12) .…”

Section: Introductionmentioning

confidence: 70%

“…Kearns-Sayre syndrome (KS) is related to genetic mutation in mitochondrial DNA (mDNA). Mitochondria are an intracellular organelle, which has its own genome (DNA) (2) , and it is possible that multiple deletions of this genome occur (3) . The inheritance of the mitochondrial genome is maternal because, during the course of fertilization, the spermatozoon's tail, which contains the mitochondria, is displaced during penetration into the ovum.…”

Section: Introductionmentioning

confidence: 99%

Implante coclear na síndrome Kearns-Sayre: estudo de caso de irmãs gêmeas

Oliveira

Brosco

Oliveira

et al. 2017

Audiol., Commun. Res.

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Hearing impairment may be related to several factors, including hearing loss due to certain genetic syndromes. Kearns-Sayre syndrome is characterized by mutations in mitochondrial DNA (deoxyribonucleic acid), responsible for energy production (adenosine triphosphate -ATP), which is extremely important for the development of structures that need it, such as the cochlea. The case was followed in the hospital, since 2000, due to the progressive characteristic of the hearing loss observed in the audiological examinations and the findings in cases related to the syndrome. The intervention with individual sound amplification devices (AASI) proved to be of little benefit to the good oral communication of one of the patients, who was diagnosed as having bilateral profound hearing loss. Thus, after discussions at clinical meetings, the team opted for the indication of the cochlear implant for the patient, according to the current criteria for indication of this surgery, and with which it obtained good results. Her twin sister, who presented good results with AASI, will continue to undergo audiological follow-up, to verify the evolution of the case and discuss a new conduct, if necessary. Patients with suspected or diagnosed Kearns-Sayre syndrome should seek the audiological diagnosis, since it is a possible progressive hearing loss, requiring rehabilitation with the use of hearing devices. Maintaining oral communication is extremely important because in these cases other functions will be impaired, such as muscle tone and vision.Keywords: Hearing loss; Cochlear implantation; Syndrome; Diseases in twins; Audiology RESUMO A deficiência auditiva pode estar relacionada com diversos fatores, entre eles, a perda auditiva decorrente de determinadas síndromes genéticas. A síndrome Kearns-Sayre é caracterizada por mutações no DNA (deoxyribonucleic acid) mitocondrial, responsável pela produção de energia (trifosfato de adenosina -ATP), que é de extrema importância para o desenvolvimento de estruturas que dela necessitam, como a cóclea. O caso foi acompanhado no hospital, desde o ano 2000, devido à característica progressiva da perda auditiva constatada nos exames audiológicos e nos achados em casos relacionados à síndrome. A intervenção com os aparelhos de amplificação sonora individual (AASI) se mostrou pouco benéfica para a boa comunicação oral de uma das pacientes, que passou a ter o diagnóstico de perda auditiva profunda bilateral. Assim, após discussões em reuniões clinicas, a equipe optou pela indicação do implante coclear para a paciente, segundo os critérios atuais para indicação desta cirurgia, e com o qual obteve bons resultados. Sua irmã gêmea, que apresentou bons resultados com AASI, continuará em acompanhamento audiológico, para se verificar a evolução do caso e discutir uma nova conduta, caso necessário. Pacientes com suspeita, ou diagnóstico de síndrome Kearns-Sayre devem buscar o diagnóstico audiológico, pois se trata de uma possível perda auditiva progressiva, sendo necessária a reabilitação com o uso de d...

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“…Pathogenic mtDNA mutations are frequently heteroplasmic in nature, in which different populations of ‘wild type’ and mutated mtDNA exist within the same cell or tissue, and are generally of later onset, associated with milder clinical presentations (eg, isolated ophthalmoparesis and extraocular eye muscle involvement) and may contain a significant myopathic component. As a result, purely isolated myopathic presentations are rare and often sporadic in nature,27 28 and more commonly presentations involving a myopathic component manifest with additional evidence of other organ/tissue involvement, for example, mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes,29 progressive external ophthalmoplegia30 and Kearns–Sayre syndrome 31. Nevertheless, patients with MRC disease presenting primarily with muscle weakness/exercise intolerance/and early fatigue,32 and rarely acute rhabdomyolysis, are described, both for mtDNA mutations involving structural components of the respiratory chain33 34 and nuclear gene mutations such as ISCU, a deficiency of iron–sulfur cluster assembly 35–37.…”

Section: The Disordersmentioning

confidence: 99%

The investigation and management of metabolic myopathies

et al. 2015

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Metabolic myopathies (MM) are rare inherited primary muscle disorders that are mainly due to abnormalities of muscle energy metabolism resulting in skeletal muscle dysfunction. These diseases include disorders of fatty acid oxidation, glyco(geno)lytic muscle disorders and mitochondrial respiratory chain (MRC) disease. Clinically these disorders present with a range of symptoms including infantile hypotonia, myalgia/exercise tolerance, chronic or acute muscle weakness, cramps/spasms/stiffness or episodic acute rhabdomyolysis. The precipitant may be fasting, infection, general anaesthesia, heat/cold or most commonly, exercise. However, the differential diagnosis includes a wide range of both acquired and inherited conditions and these include exposure to drugs/toxins, inflammatory myopathies, dystrophies and channelopathies. Streamlining of existing diagnostic protocols has now become a realistic prospect given the availability of second-generation sequencing. A diagnostic pathway using a 'rhabdomyolysis' gene panel at an early stage of the diagnostic process is proposed. Following detailed clinical evaluation and first-line investigations, some patients will be identified as candidates for McArdle disease/glycogen storage disease type V or MRC disease and these will be referred directly to the specialised services. However, for the majority of patients, second-line investigation is best undertaken through next-generation sequencing using a 'rhabdomyolysis' gene panel. Following molecular analysis and careful evaluation of the findings, some patients will receive a clear diagnosis. Further functional or specific targeted testing may be required in other patients to evaluate the significance of uncertain/equivocal findings. For patients with no clear diagnosis, further investigations will be required through a specialist centre.

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A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns–Sayre syndrome

Abstract: This report highlights the fact that in case of simultaneous presentation of polyendocrinopathies and renal disease early in childhood, KSS should be considered.

Cited by 31 publications

References 13 publications

Renal manifestations of primary mitochondrial disorders

Renal manifestations of primary mitochondrial disorders

Implante coclear na síndrome Kearns-Sayre: estudo de caso de irmãs gêmeas

The investigation and management of metabolic myopathies

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