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Robotic– Assited Heller’s Myotomy for Two Children with Allgrove’s Syndrome

Aayed Al-Qahtani*, Ahmed H. Al-Salem,
Division of Pediatric Surgery, Department of Surgery, King Khalid University Hospital, Riyadh, Saudi Arabia*
Department of Pediatric Surgery, Maternity and Children Hospital, Dammam, Saudi Arabia

 

 

Correspondence

Dr. Ahmed H. al-Salem
P.O. BOX 61015
Qatif 31911
Saudi Arabia
fax: 96638630009
e-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.

 

Abstract

Allgrove’s syndrome (Achalasia, Alacrimia, Adrenal insufficiency, Autonomic neuropathy) is a very rare condition in the pediatric age group. It is congenital inherited as an autosomal recessive but the clinical picture is variable. We report two siblings with Allgrove’s syndrome treated successfully with robotic assisted Heller’s myotomy. Robotic assisted Heller’s myotomy is a feasible, safe and effective in children with Allgrove’s syndrome. The associated autonomic neuropathy in children with Allgrove’s syndrome must be kept in mind when an additional antireflux procedure is contemplated as this may lead to post-operative dysphagia.

Key words: allgrove’s syndrome, achalasia, heller’s myotomy, robotic assisted heller’s myotomy.

  

Introduction

Allgrove’s syndrome is a very rare disorder characterized by adrenal insufficiency, achalasia, alacrimia and autonomic neuropathy, hence the name “4A syndrome” [1, 2]. Affected patients usually present as children with achalasia and alacrimia but the clinical features are variable. One of the most frequent initial presentations of patients with Allgrove’s syndrome is a hypoglycemic seizure secondary to glucocorticoid deficiency.

Achalasia is a relatively uncommon esophageal disorder and considered to be rare in the pediatric age group. Its rarity in children is a contributing factor for delay in diagnosis. This is especially so in children with Allgrove’s syndrome. We report two siblings with Allgrove’s syndrome treated by robotic assisted Heller’s myotomy. Aspects of diagnosis and different modalities of treatment are also discussed.

Case Reports

CASE 1:

A 2.5-year-old male child was referred to our hospital with repeated attacks of vomiting since the age of 6 months. He was not gaining weight and the vomiting was associated with shortness of breath. He was a product of full term normal vaginal delivery to a 23-year-old mother. His birth weight was 2.5 kg. His weight at the age of 2 years was 10.5 kg and at the age of 2.5 years was 9.7 kg. Clinically, he was thin built with a peculiar facial appearance. His face was long and thin with narrow upper lip and a down-turned mouth. His eyes were dry. He also had peaked teeth. He had abdominal ultrasound which was normal. His electrolytes were normal and his ACTH level was 26.3 pg/ml and 61.3 pg/ml (normal 0-46 pg/ml). His cortisole was 10.3 ug/dl and 60 minutes after ACTH stimulation was 12.2 ug/dl (normal 6.2-19.4 ug/dl). His barium swallow ( fig. 1) showed features of achalasia.

heller 1

Figure 1. Barium swallow showing dilated esophagus with bird’s peak sign. 

He was admitted several times for exacerbations of bronchial asthma. When he was about 3 years old he was referred for surgery. He underwent esophageal balloon dilatation with only transient improvement. He had 5 balloon esophageal dilatations and after each dilatation, there was improvement which was transient. Subsequently, he underwent robotic assisted Heller’s myotomy using the Da Vinci Robotic system, with marked improvement. His vomiting stopped, he started eating solid foods and his weight increased. He is now 10 months postoperatively and his weight increased to 12.5 kg. Currently, he is on hydrocortisone treatment. He had a follow-up barium swallow which showed normal emptying of the esophagus with no evidence of gastroesophageal reflux. On two occasions, he was admitted to the hospital because of hypoglycemic convulsions. His mother forgot to give him his medications and his admission blood sugar was 29 and 40 mg/dl.

CASE 2:

A 2 year old female, the sister of our first patient was referred to our hospital with repeated attacks of vomiting. She was well till about 2 months prior to her referral to our hospital when she started to complain of recurrent attacks of vomiting. She also had alacrimia. Clinically, she was normal looking with no other features apart from dry eyes and because of the family history, she had barium swallow which showed features of achalasia. She did not show clinical or biochemical features of adrenal insufficiency at this stage. She underwent robotic assisted Heller’s myotomy using the Da Vinci Robotic system. Post operatively, she had a good recovery and her symptoms improved markedly. She is now 9 months postoperatively and feeling well. Her weight at the time of surgery was 10 kg and now her weight is 11.5 kg.

Discussion

In 1978, Allogrove et al. described two unrelated pairs of siblings with isolated glucocorticoid deficiency and achalasia of the esophagus [3]. Three of them also had defective tears production. This was called 3A syndrome (Adrenal insufficiency, Achalasia, Alacrimia). Subsequently, several authors described autonomic disturbances associated with the original Allgrove’s syndrome, hence the name 4A syndrome (Adrenal insufficiency, Achalasia, Alacrimia, Autonomic disturbances) [1, 2]. Specific autonomic disturbances associated with Allgrove’s syndrome include abnormal papillary reflexes, heart rate variability and orthostatic hypotension. It is also apparent that a slow neurological deterioration occurs in many of these patients [1, 2, 4]. This most frequently manifests as mild mental retardation, developmental delay and autonomic neuropathy, but other symptoms such as ataxia, dystonia, chorea and muscle weakness have also been described [1, 4, 5, 6]. Allgrove’s syndrome is a rare disorder which is inherited as an autosomal recessive inheritance with variable presentation.

The locus for the abnormal gene was described on chromosome 12q13 which is called ALADIN [7, 8, 9]. Intra and inter familial variability of the severity of Allgrove’s syndrome has been described [9]. This was clearly seen in our two patients who were brother and sister. One of them had the classic features of Allgrove’s syndrome including adrenal insufficiency, achalasia, alacrimia, the classic facial appearance as well as autonomic dysfunction and mild mental retardation, while the other one had only few of Allgrove’s syndrome features. The most frequent initial presentation of Allgrove’s syndrome is a hypoglycemic seizure secondary to glucocorticoid deficiency. The glucocorticoid deficiency is usually not apparent at birth and develops during the first two decades of life. Alacrimia on the other hand is typically present from early infancy, while symptoms of achalasia may appear as early as 6 months of age or can be delayed as late as early adulthood. Both of our patients presented with achalasia and alacrimia as early as 6 months of age and in both of them the diagnosis was delayed.

Achalasia in general is a relatively uncommon esophageal disorder, characterized by increased lower esophageal sphincter resting pressures, absent esophageal sphincter relaxation during swallowing and absent esophageal body contraction. In the pediatric age group, achalasia is considered to be rare and has been described in association with a variety of syndromes including Down’s syndrome, Allgrove’s syndrome and familial dysautonomia [1, 2, 10, 11]. The rarity of achalasia in the pediatric age group is a cause of delay in diagnosis and growth retardation and many of these patients are treated as cases of gastroesophageal reflux. An esophagogram might show the characteristic bird’s beak sign but manometry is diagnostic. The management of achalasia in the pediatric age group is still controversial. One contributing factor is the limited number of pediatric patients with achalasia [12]. The treatment of achalasia includes esophageal dilatation (hydrostatic or pneumatic), pharmacological therapy (botulinum toxin injection and nifedipen) and operative (open or laparoscopic Heller’s myotomy) [12, 13, 14, 15]. In the pediatric age group, we do not advocate using botulinum toxin injection. Not only this therapy is not effective but it might also increase the chance of failure of Heller’s myotomy. In the pediatric age group, the results of esophageal dilatation whether hydrostatic or pneumatic are not clear. The obstruction in achalasia is functional and esophageal dilatation will ameliorate the symptoms but this may be temporary. This was the case in one of our patients who had hydrostatic balloon esophageal dilatation.

There was a definite response to dilatation but this was only temporary. The presence of autonomic neuropathy in patients with Allgrove’s syndrome may be a contributing factor for the poor response to esophageal dilatation as this may also lead to delayed esophageal emptying. This pushed us towards early robotic assisted Heller’s myotomy for our second patient. Laparoscopic Heller’s myotomy although does not treat the esophageal dysmotility, it does significantly improves symptoms of achalasia [12]. This was the case in our two patients where there was a definite amelioration of their symptoms. Following Heller’s myotomy, there is a definite risk of developing gastroesophageal reflux, and to reduce this, an antireflux procedure is to be advocated without impairing esophageal or gastric emptying [11, 12, 13, 14, 15]. In both our patients with Allgrove’s syndrome, we elected not to add an antireflux procedure because of the fear of post-operative dysphagia as a result of the associated autonomic neuropathy.

To overcome this, and reduce the chance of developing post-operative gastroesophageal reflux, we left the retroesophageal space undisturbed. Persistent dysphagia in these patients however, should be investigated to rule out incomplete myotomy or a too tight antireflux procedure. We found robotic assisted Heller’s myotomy is feasible, safe and effective in children with Allgrove’s syndrome. In children with Allgrove’s syndrome, careful replacement of glucocorticoids is important to avoid adrenal crisis and to allow for normal growth. In these patients adrenal insufficiency may not be apparent clinically and will manifest under stress at the time of surgery. In conclusion, Allgrove’s syndrome is rare and must be considered in infants and children presenting with dysphagia and alacrimia. Robotic assisted Heller’s myotomy is feasible, safe and effective in such patients. The associated autonomic neuropathy is an important factor in these patients and must be kept in mind when a descision is made to add an antireflux procedure as this may lead to post-operative dysphagia.

 

 

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