Achalasia Cardia of Infancy: Report of Two Cases

Chatterjee, Souvik; Gajbhiye, Vishal; De, Avidip; Nath, Sasanka; Ghosh, Dipak; Das, Sukanta

doi:10.5915/44-1-9260

Cited by 10 publications

(12 citation statements)

References 29 publications

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“…12 As mentioned before, achalasia is a rare disease in children and its origin is generally unknown. 2,6 In childhood, rarity of this disease can frequently lead to a delayed diagnosis and treatment. 6 This disease should be considered in the differential diagnosis of children with signs and symptoms of esophageal obstruction.…”

Section: Discussionmentioning

confidence: 99%

“…2,6 In childhood, rarity of this disease can frequently lead to a delayed diagnosis and treatment. 6 This disease should be considered in the differential diagnosis of children with signs and symptoms of esophageal obstruction. 2 This case illustrates the diagnostic difficulties in adolescents with a normal UDE, as a reminder that the normality of UDE should not exclude this hypothesis.…”

Section: Discussionmentioning

confidence: 99%

“…2 Thus, the diagnosis of achalasia should be considered in children with persistent vomiting or growth failure, particularly when associated with symptoms of food impact, dysphagia and weight loss. 6 Secondary pulmonary disease can occur due to regurgitation and aspiration of the retained material in the esophagus, manifested by nocturnal cough, choking, frequent pulmonary infections, wheezing, atelectasis, and less likely, pulmonary empyema. 4 Some patients may develop hoarseness caused by direct compression of the recurrent laryngeal nerve by a distended esophagus.…”

Section: Discussionmentioning

confidence: 99%

“…3---7,12 Few patients present symptoms before 15 years of age. 6 In children, the average age at diagnosis is 8.8 years. 8 The influence of genetic factors in the etiology of achalasia is suggested by the existence of this disease associated with some syndromes, such as Allgrove Syndrome, Rozycki Syndrome and Pierre---Robin Syndrome 3 .…”

Section: Introductionmentioning

confidence: 99%

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An uncommon cause of dysphagia in pediatric age

Aquino

Rocha

Almeida

et al. 2014

GE Portuguese Journal of Gastroenterology

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Introduction: Achalasia is a rare disease in children of unknown etiology. For its rarity and diagnostic difficulty, the authors report the case of a teenager with achalasia. Case report: 15-year-old boy, with unremarkable past medical history, was referred to the outpatient clinic with a 3-month history of regurgitation and dysphagia. An upper digestive endoscopy was performed, which was normal. The symptoms got worse and he lost 9% of weight. Considering the diagnosis of eating behavior disorder, he was admitted for further investigation. Laboratorial evaluation was unremarkable. Dysphagia characterization suggested a disorder of esophageal motility. Barium follow-through was compatible with achalasia and high-resolution esophageal manometry confirmed this diagnosis. He underwent laparoscopic Heller myotomy combined with Dor fundoplication with no symptom recurrence. Comments: Achalasia is a rare disease associated with a challenging and delayed diagnosis. The normality of the upper digestive endoscopy and the hypothesis of an eating behavior disorder both led to a delayed diagnosis. It is important to proceed with investigation in the presence of unremitting dysphagia symptoms. Uma causa de disfagia pouco comum em idade pediátrica ResumoIntrodução: A acalásia é uma doença rara em idade pediátrica, de etiologia desconhecida. Pela sua raridade e dificuldade diagnóstica, os autores relatam o caso de um adolescente com acalásia. J. Aquino et al.Caso clínico: Adolescente de 15 anos, sexo masculino, com antecedentes pessoais irrelevantes. Por queixas de regurgitação e disfagia com 3 meses de evolução, efetuou Endoscopia Digestiva Alta (EDA) que foi normal. Após agravamento das queixas, com perda ponderal (9%), foi colocada a hipótese diagnóstica de perturbação do comportamento alimentar, pelo que foi internado para esclarecimento do quadro. Analiticamente não apresentava alterações. As características da disfagia durante o internamento (inicialmente para líquidos e posteriormente também para sólidos) sugeriram alteração da motilidade esofágica, tendo sido realizado trânsito esofágico baritado, cujo resultado foi compatível com a hipótese de acalásia. A manometria esofágica de alta resolução confirmou este diagnóstico. Foi submetido a miotomia laparoscópica de Heller com fundoplicatura de Dor, sem recorrência das queixas. Comentários: A acalásia é uma doença rara, associada a dificuldade e atraso no diagnóstico. A normalidade da EDA e a hipótese de perturbação do comportamento alimentar, contribuíram para atrasar o diagnóstico, pelo que, na presença de queixas persistentes de regurgitação ou disfagia é importante caracterizar exaustivamente os sintomas, pensar na doença e prosseguir com a investigação.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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An uncommon cause of dysphagia in pediatric age

Aquino

Rocha

Almeida

et al. 2014

GE Portuguese Journal of Gastroenterology

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“…Modified Heller's Oesophagocardiomyotomy with anti reflux procedure is the treatment of choice for infantile achalasia. Good to excellent clinical response has been reported in long term survey after Heller's Oesophagocardiomyotomy and no further surgery or dialatation was required in most of the cases [14][15][16]. …”

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confidence: 99%

An Infant with Nasal Regurgitation Since Birth and Failure to Thrive

Singh

Sarawagi

Sharma

et al. 2015

JCDR

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The condition achalasia cardia is rare in paediatric age group, especially in infants. An 11-month-old female infant presented with complaints of oronasal regurgitation since birth and failure to thrive. Upper GI contrast study was conducted which demonstrated massive dilatation of lower 2/3(rd) of oesophagus with abrupt narrowing at lower oesophageal sphincter and positive 'bird beak sign'. On the basis of radiological findings infantile achalasia cardia was diagnosed and patient underwent modified Heller's Oesophagocardiomyotomy with anti reflux procedure. Post operatively the symptoms subsided and weight gain was noted after six month follow up. Although functional infant regurgitation and Gastro-oesophageal reflux (GER) is common in infancy, uncommon causes like achalasia cardia should also be considered as a differential when symptoms are persisting.

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A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants

Geiculescu

Dranove

Cosper

et al. 2022

American J of Med Genetics Pt A

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Achalasia is rare in the pediatric population and should prompt clinicians to consider genetic disorders associated with this condition. While AAA syndrome (also known as Allgrove or Triple A syndrome) is commonly considered, GMPPA-congenital disorder of glycosylation (CDG) should also be in the differential diagnosis. We report a 9-month-old female born to nonconsanguineous parents with achalasia and alacrima found to have two novel compound heterozygous variants in the GMPPA gene associated with GMPPA-CDG. This rare disorder is commonly associated with developmental delay and intellectual disability. We discuss management of this disorder including the importance of confirming a genetic diagnosis and summarize reported cases.

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Achalasia Cardia of Infancy: Report of Two Cases

Cited by 10 publications

References 29 publications

An uncommon cause of dysphagia in pediatric age

An uncommon cause of dysphagia in pediatric age

An Infant with Nasal Regurgitation Since Birth and Failure to Thrive

A rare cause of infantile achalasia: GMPPA‐congenital disorder of glycosylation with two novel compound heterozygous variants

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