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Retinopathy associated with pancreatitis in a child with maple syrup urine disease
  1. JOHN DANIAS,
  2. EDWARD L RAAB,
  3. ALAN H FRIEDMAN
  1. Department of Ophthalmology, Mt Sinai Medical Center, CUNY, New York, USA
  1. Dr Friedman, Mt Sinai Medical Center, Box 1183, 1 Gustave L Levy Place, New York, NY 10029, USA.

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Editor,—Retinopathy associated with pancreatitis is an uncommon condition first described in 1975.1 To date, fewer than 50 cases have been reported, all involving adults. We report a case of pancreatitis with retinopathy in a young child with maple syrup urine disease, a rare metabolic disorder.

case report

A 7 year old Indian female presented with maple syrup urine disease (MSUD) diagnosed in infancy. She has been maintained on a special diet since then, enjoying normal development. However, during December 1995 she was admitted to the hospital for management of acute gastroenteritis and dehydration. Laboratory studies included serum amylase and lipase which were within normal limits. She received hyperalimentation with glucose and intralipids through a femoral catheter. On her third hospital day she was noted to have mental status changes which improved with hydration. However, on her sixth hospital day her mental status deteriorated again. Her abdomen became diffusely tender. Laboratory studies revealed serum amylase 453 U/l (normal limits 40–128), calcium 8.2 mg/dl, phosphorus 2.2 mg/dl, albumin 2.6 g/dl, total protein 5.1 g/dl, and a white cell count of 12.4 × 106/l. The serum was noted to be lipaemic despite her receiving only intravenous dextrose in 1/2 normal saline solutions. All other routine laboratory values were within normal limits. Arterial blood gases were within normal limits. Amino acid levels of isoleucine, histidine, and valine were within normal limits while leucine was 12.9 mg/dl (normal limits 1.0–5.2). During a neurological examination white lesions were noted in both fundi. In the next 48 hours, the patient’s general status improved. Her serum amylase levels declined while lipase levels increased to reach a peak of 2485 U/l (normal limits 23–208).

An ophthalmic evaluation 2 days after the initial elevation in serum amylase revealed visual acuity of 20/50 in both eyes (Snellen E) both at distance and at near. No afferent pupillary defect was recorded. Ocular versions were intact. Slit lamp biomicroscopy was unremarkable. Dilated fundus examination revealed the presence of bilateral white fluffy lesions and areas of haemorrhage (Fig 1). Findings were concentrated in the posterior poles only. Fluorescein angiography showed minimal capillary non-perfusion (Fig 2).

Figure 1

Fundus photographs (A) right eye, (B) left eye. Note dilated vessels, haemorrhage, and numerous cotton wool spots in the posterior pole.

Figure 2

Fluorescein angiograms of right eye (A) early (B) late. The macular circulation is essentially normal except for some oedema along the superior and inferior arcades.

The patient slowly improved spontaneously. On follow up examination 1 month later, visual acuity was 20/25 in both eyes with no correction. Fundus examination was completely normal, with full resolution both of cotton wool spots and of haemorrhages.

comment

Maple syrup urine disease is caused by a defect in branched chain ketoacid (BCKA) dehydrogenase.2 Ocular complications of untreated disease or late diagnosis include optic atrophy, nystagmus, ophthalmoplegia, strabismus, and cortical blindness.3

Pancreatitis is a known complication of branched chain organic acidaemias (BCOA). In a series of 108 paediatric patients with BCOA, nine cases of pancreatitis were found during a 10 year period. One of these cases was in a patient with MSUD.4

Retinopathy as a rare complication of acute pancreatitis was first described in 1975.1 It has been reported to occur either before5 or after the manifestation of acute pancreatitis.1 6-10 All reported cases to date have been in young adults (ages 25–40 years), often associated with a history of ethanol misuse. None of the previously reported cases had associated systemic metabolic diseases.

The aetiology of retinopathy of pancreatitis is debatable. An older theory, supported by some experimental data,11 holds that fat emboli found in many organs in cases of acute pancreatitis12 13 cause ischaemic retinal infarcts. Retinal fat emboli have also been found in Purtscher’s retinopathy,14 a condition remarkably similar to pancreatitis associated retinopathy.

Another theory proposes embolisation of retinal vessels by complement induced fibrin clots and leucoaggregates as the causative mechanism.15 However, experimental studies have failed to reproduce various features of the clinical picture of retinopathy of pancreatitis.16

The presence of lipaemia in our patient argues for the lipid embolism theory. Hypovolaemia and hypoxia did not occur and are thus unlikely to have been involved in the pathogenesis of the retinal picture. Although our patient maintained almost normal levels of leucine, isoleucine, and valine throughout the above episode, it is unclear whether the presence of MSUD predisposed her to the development of retinopathy of pancreatitis.

Acknowledgments

This work was supported in part by an unrestricted grant from Research to Prevent Blindness Inc, New York, NY, USA.

References

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