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Year : 2022  |  Volume : 2  |  Issue : 4  |  Page : 238-240

An Unusual Cause of Recurrent Pneumonia in a Child

1 Department of Pediatrics, RK Hospital for Women and Children, Thanjavur, Tamil Nadu, India
2 Department of Pediatrics, Kanchi Kamakoti CHILDS Trust Hosiptal, Chennai, Tamil Nadu, India

Date of Submission21-Jul-2022
Date of Decision01-Nov-2022
Date of Acceptance02-Nov-2022
Date of Web Publication29-Nov-2022

Correspondence Address:
Dr. Manoj Madhusudan
RK Hospital for Women and Children, No 7, 2nd Cross, VOC Nagar, Thanjavur, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_178_22

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Background: Recurrent pneumonia is defined as at least two episodes of pneumonia in a year or three episodes during a lifetime, with clinical and radiological improvement in between. Clinical Description: A 5-year and 8-month-old boy presented with a history of three episodes of fever and fast breathing of variable duration over 8 months. In between, he had a persistent moist cough with intermittent fever, weight loss, and darkening pigmentation. He had three prior admissions for the same, with X-rays showing multilobar pneumonia. Routine investigations were normal. Tuberculosis workup was negative. Computerized tomography showed changes in consolidation without any evidence of structural abnormality. The child became asymptomatic with short courses of antibiotics and nebulization during these admissions. He was referred to us for further evaluation, and we reviewed his history, examination, and medical records. Management: The darkened complexion was suggestive of Addisonian pigmentation, but serum electrolytes were normal. However, very low levels of morning cortisol and high adrenocorticotrophic hormone were suggestive of adrenal insufficiency. Retrospective history revealed dysphagia with nocturnal cough suggesting aspiration. Barium swallow confirmed achalasia by the presence of a dilated esophagus with distal narrowing. The clinical phenotype was suggestive of Triple A (AAA) syndrome with Addison's disease, alacrimia, and achalasia. A positive Schirmer's test confirmed alacrimia and established the clinical diagnosis. He was started on replacement hydrocortisone and later taken up for Laparoscopic Heller Myotomy with fundoplication. On follow-up, his appetite improved, his cough subsided, he had adequate weight gain, and the pigmentation had decreased. Conclusion: Achalasia should be considered a differential in recurrent pneumonia. AAA syndrome has isolated glucocorticoid deficiency. Therefore, hyperpigmentation in the presence of normal electrolytes should not preclude considering the possibility of adrenal insufficiency.

Keywords: Achalasia, Addison's disease, Allgrove syndrome, recurrent pneumonia

How to cite this article:
Madhusudan M, Ramesh V, Manikavasagam S. An Unusual Cause of Recurrent Pneumonia in a Child. Indian Pediatr Case Rep 2022;2:238-40

How to cite this URL:
Madhusudan M, Ramesh V, Manikavasagam S. An Unusual Cause of Recurrent Pneumonia in a Child. Indian Pediatr Case Rep [serial online] 2022 [cited 2023 Jan 30];2:238-40. Available from: http://www.ipcares.org/text.asp?2022/2/4/238/362241

Recurrent pneumonia is defined as the occurrence of at least two episodes of pneumonia in a year, or three episodes during a lifetime, with clinical and radiological improvement in between.[1] Depending on the number of lobes involved, recurrent pneumonia can be unilobar or multilobar. Unilobar pneumonia occurs due to either anatomical abnormalities (congenital pulmonary airway malformation, etc.), or extrinsic/intrinsic causes of airway compression (such as mediastinal lymph nodes, foreign bodies, or focal bronchiectasis). Multilobar pneumonia occurs in disorders etiologies such as primary immune deficiency, congenital heart disease, aspiration syndromes, or cystic fibrosis.

We report an unusual diagnosis in a boy who was apparently normal till 5 years of age and then presented with recurrent pneumonia, hyperpigmentation, and weight loss secondary to what emerged to be a rare genetic syndrome.

  Clinical Description Top

A 5-year and 8-month-old boy was referred to our institute for the evaluation of three episodes of pneumonia since the age of 5 years, around 8 months. Each episode was associated with fever, fast breathing, and subcostal retractions, severe enough to require hospitalization. Documentation of examination findings during any of these events was not available. Treatment comprised nebulization with bronchodilators and intravenous antibiotics. The duration of these episodes ranged from 7–10 days before the resolution of the major respiratory symptoms, but a moist cough persisted in between the episodes. There were no associated atopic symptoms such as bouts of sneezing, nose rubbing, urticarial rashes, or allergic conjunctivitis. There was no history of snoring or open-mouth breathing at night indicative of adenoids. These symptoms had been labeled as an asthmatic cough and treated with inhaled corticosteroid and salbutamol combinations, but there was no significant symptomatic relief. No other contributory history was found that pointed to the involvement of any other system.

The patient was described by his parents as a happy and playful child. He had good academic performance before the illness but subsequently had frequent school absenteeism due to his illness. His appetite had decreased significantly, resulting in the loosening of clothes and a documented weight loss of around 2 kg since the onset of symptoms. His parents had also noticed generalized darkening of his complexion for the same duration.

On reviewing the previous investigations, the salient findings noted were: hemoglobin (11.3 mg/dl); normal total leukocyte count and eosinophil differential count (7600/mm3, E 1); normal values of random blood glucose and serum electrolytes; chest X-rays done during each episode showing parenchymal infiltrates involving the left upper lobe and bilateral lower lobes, a negative workup for tuberculosis (TB) including a negative cartridge-based nucleic acid amplification of fasting gastric aspirate; and computerized tomography of the thorax (at third admission) revealing bilateral lower lobe consolidation. The patient was the second born issue of a nonconsanguineous marriage, with a healthy elder sister. There was no history of contact with TB, family history of known allergies, or suggestive of atopy. He was completely immunized and developmentally normal.

Examination revealed normal vitals: Heart rate 89/min, respiratory rate 22/min (no chest retractions), blood pressure within normal centiles, and oxygen saturation (SpO2) 97% in room air. He was undernourished with a weight of 12.6 kg (<3rd centile), the height of 108 cm (10th centile), and body mass index <3rd centile. Significant hyperpigmentation of the skin, lips, and palms [Figure 1]a and [Figure 1]b and grade 2 clubbing were noted. There was no evidence of pallor, icterus, cyanosis, or significant lymphadenopathy. The throat was normal, and there was no sinus tenderness. On respiratory system examination, bilateral air entry was good, with scattered crepitations heard over the right infraaxillary region. There was no wheeze or other added sounds. The cardiovascular examination was normal, without cardiomegaly or murmurs. His abdomen was soft without any palpable mass or hepatosplenomegaly. There were no neurological abnormalities.
Figure 1: Hyperpigmentation involving (a) the lips; and (b) the palmar creases

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Thus, the clinical clues pointed toward a chronic disorder resulting in recurrent multilobar pneumonia, weight loss, clubbing, and skin pigmentation (that appeared typical of Addisonian pigmentation). This gave direction to our first line of investigation, rather than exploring other possibilities such as TB, allergies, and immunodeficiency disorders (that would otherwise have been likely differentials for recurrent pneumonia in a child.

Management and outcome

The routine tests conducted at our institute were normal, including random glucose (95 mg/dl) and serum electrolytes (sodium 138 meq/l, potassium 4.2 meq/l). However, the early morning cortisol level was low (1.1 μg/dl), and adrenocorticotropic hormone (ACTH) level was very high (>1250 pg/ml). A subsequent ACTH stimulation test failed to raise the cortisol levels, confirming the diagnosis of adrenal insufficiency.

We reviewed the literature for causes of recurrent pneumonia and adrenal insufficiency, and revisited the history and examination. In-depth probing revealed that the child had developed dysphagia to solids (not liquids), and that the cough occurred within minutes of lying down (suggestive of probable episodes of microaspiration). He also had occasional episodes of vomiting and regurgitation of feeds. The combination of adrenal insufficiency with dysphagia and recurrent aspiration raised the suspicion of Allgrove syndrome. A barium swallow showed dilated esophagus with distal narrowing consistent with achalasia cardia [Figure 2]. Since alacrimia is a key feature of this syndrome, we proceeded to conduct the Schirmer's test. This confirmed alacrimia since the wetting of the blotting paper was only 3 mm within the stipulated time bilaterally (normal ≥10 mm in 2 min irrespective of gender and age). The triad of ACTH-resistant cortisol insufficiency, achalasia, and alacrimia, established the clinical diagnosis of Allgrove or Triple A (AAA) syndrome in our child. We were unable to confirm this by genetic analysis due to financial constraints.
Figure 2: Moderate dilatation of the esophagus with smooth narrowing of the gastro esophageal junction-suggestive of achalasia

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The child was started on cortisol replacement therapy in the form of oral hydrocortisone (10 mg/m2/day) and prescribed lubricant eye drops. After a month, he underwent laparoscopic Heller's myotomy with partial fundoplication. By his 2-month postsurgery follow-up visit, his episodes of aspiration had abated, and his appetite had improved. He displayed a gain in weight of 2 kg, and the hyperpigmentation had decreased.

  Discussion Top

Allgrove syndrome is an autosomal recessive disorder caused by a mutation in the AAAS gene that is located on chromosome 12q. 13. This gene consists of 16 exons that encode a nuclear envelope protein known as ALADIN (alacrimia-achalasia-adrenal insufficiency-neurologic).[2] A variety of mutations are scattered throughout the gene have been reported, except exon 3. The abnormality of this protein affects the exchange of nuclear material resulting in the typical manifestations. Affected individuals develop a triad of alacrimia (90%), adrenal insufficiency (85%), and achalasia (75%), with or without associated neurological manifestations such as developmental delay and seizures.[3] Manifestations vary widely in severity, with some patients remaining asymptomatic and others displaying a fatal outcome. The classic triad is most often seen in children. Patients in whom onset is late or in adulthood will have a higher likelihood of symptoms involving the nervous system.

Alacrimia is the most common finding in AAA syndrome. Although it is present right from the newborn period, children remain asymptomatic. Even in this child, the parents remarked that the child “cried without tears” on probing but had never considered it to be something to seek medical care for. Achalasia commonly manifests in the first decade of life and is quite often the presenting symptom of this syndrome. Children manifest with dysphagia, vomiting, and weight loss. Recurrent pneumonia (as was seen in this case) occurs secondary to the stasis of food in the esophagus and subsequent aspiration. This has been described in several case reports.[4],[5] We suspected achalasia when we started thinking on the lines of Triple-A syndrome. Laparoscopic Heller's myotomy, with or without fundoplication, remains the treatment of choice in children with achalasia, with excellent postoperative results.[6] Per oral endoscopic myotomy is a newer and less invasive procedure showing similar efficacy.[7] Endoscopic dilatation and Botox injection are less invasive techniques used for milder cases.

Adrenal insufficiency occurs in 85% of children with AAA syndrome that manifests during the first two decades of life. It is the leading cause of mortality in children, mainly from severe hypoglycemia and shock.[8] It should be noted that the primary cause of adrenal insufficiency in AAA syndrome is an ACTH-resistant glucocorticoid deficiency, with most children (85%) having normal mineralocorticoid production. Aldosterone (mineralocorticoid) is the principal hormone involved in electrolyte balance; hence, most children with AAA syndrome have normal electrolytes. These children have very high ACTH with low cortisol levels. Confirmation of diagnosis is by documenting the absence of cortisol elevation, post ACTH, and genetic analysis to detect the mutations.[9]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Troeger C, Forouzanfar M, Rao PC, et al. Estimates of the global, regional, and national morbidity, mortality, and aetiologies of lower respiratory tract infections in 195 countries: A systematic analysis for the Global Burden of Disease Study 2015. Lancet Infect Dis 2017;17:1133-61.  Back to cited text no. 1
Sheikh MM, Bittar K. Allgrove Syndrome. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK560701/?report=classic. [Last Updated on 2022 May 01].  Back to cited text no. 2
Hanino N, Swed S, Zakkor MD, et al. Allgrove syndrome: Case report of 18 years old male: The first case report from Syria. Ann Med Surg (Lond) 2021;72:103009.  Back to cited text no. 3
Parhizkar B, Maghsoodi N, Forootan M, et al. A 12 year old boy with recurrent episodes of pneumonia: Triple a syndrome. Gastroenterol Hepatol Bed Bench 2012;5:112-5.  Back to cited text no. 4
Hallal C, Kieling CO, Nunes DL, et al. Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: A twelve-year single center experience. Pediatr Surg Int 2012;28:1211-7.  Back to cited text no. 5
Tashiro J, Petrosyan M, Kane TD. Current management of pediatric achalasia. Transl Gastroenterol Hepatol 2021;6:33.  Back to cited text no. 6
Lee Y, Brar K, Doumouras AG, et al. Peroral endoscopic myotomy (POEM) for the treatment of pediatric achalasia: A systematic review and meta-analysis. Surg Endosc 2019;33:1710-20.  Back to cited text no. 7
Flokas ME, Tomani M, Agdere L, et al. Triple A syndrome (Allgrove syndrome): Improving outcomes with a multidisciplinary approach. Pediatric Health Med Ther 2019;10:99-106.  Back to cited text no. 8
Li W, Gong C, Qi Z, et al. Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases. Exp Ther Med 2015;10:1277-82.  Back to cited text no. 9


  [Figure 1], [Figure 2]


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