The maladies of malabsorption.

Malabsorption syndrome (MAS) is a common condition in India. In Indian adults, tropical sprue and celiac disease are leading causes of MAS. Sometimes, the diagnosis of MAS may pose a challenge due to the varied signs and symptoms. We present a case of MAS in a young female, whose presenting symptoms were mainly neurological. She was successfully treated under regular follow-up for the past 6 years without any symptoms.

Introduction

In India, malabsorption syndrome (MAS) is a fairly common condition.[1] Tropical sprue and celiac disease are common causes of MAS among Indian adults.[123] The signs and symptoms of malabsorption are varied. In MAS, sometimes patients present with neurological abnormalities. We present one interesting case of MAS, where the patient predominantly had neurological manifestations.

Case Report

A 15-year-old girl presented with complaints of gait difficulty of 1-year duration. The gait difficulty was insidious in onset and slowly progressive in nature. She swayed to either side while walking. The gait difficulty was exaggerated when eyes were closed. She had a history of wash basin attacks. There was no history of difficulty in standing from sitting position, losing grip over foot wear, difficulty in holding objects, difficulty in combing hair, decreased tactile sensory perception, or hearing loss. There were complaints of the intermittent abnormal posturing of hands and fingers and feet and toes for the last 10 days. There was a history of tingling of the perioral area for 10 days before presentation. There was no prior history of stridor and/or seizures and fracture and/or bone deformities.

Her parent's marriage was consanguineous. In the past, she was diagnosed with Graves’ disease 6 years ago. She underwent subtotal thyroidectomy. The histopathology was reported as toxic nodular goiter. About 5 years ago, she was also diagnosed as having abdominal tuberculosis and received anti tuberculosis therapy. She was evaluated at different institutes for recurrent left thigh spontaneous hematoma for 1 year before the current presentation.

General examination revealed that her height was 153 cm, weight was 34.5 kg, and arm span was 157.5 cm. The height for age fell between the 3rd and 10th percentile on the Center for Disease Control growth charts, whereas her weight for age fell below the 3rd percentile - consistent with malnutrition. Trousseau's sign and Chvostek sign were positive. She had arachnodactyly, high arched palate, elongated facies, and pes cavus; features suggestive of marfanoid habitus. She also had pallor and hyperpigmented knuckles.

On examination, the patient was conscious and oriented. She had a full range of extraocular movements. Her pupils were of normal size, equal, and reacting to light. On examination of the fundus, the patient had a pale optic disc, peripapillary crescent, arterial attenuation, and retinal pigment disturbance. These findings were suggestive of an atypical retinitis pigmentosa with consequent optic atrophy.

Motor power in the upper limbs was normal. There was distal muscle weakness in the lower limbs (power 4/5). Deep tendon reflexes (biceps, triceps, supinator, knee, and ankle) were absent. Plantar reflex was bilateral flexor.

Sensory examination revealed touch and pain sensation to be normal. Joint position sense was impaired in both upper limbs and lower limbs. Vibration sense was impaired at the level of toe, ankle, thigh, wrist, and elbow bilaterally. Romberg's sign was positive. Cerebellar signs and signs of meningitis were absent.

Peripheral smear showed microcytic hypochromic red blood cells (hemoglobin - 11.2 g/dl, mean corpuscular volume - 70 fl, mean corpuscular hemoglobin - 23 pg) tear drop cells, acanthocytes, and target cells. Her prothrombin time (PT) and activated partial thromboplastin time (APTT) was prolonged. (PT - 21.7 s [C: 12.2 s], APTT - 56 s [C: 31.9 s]).

The biochemical investigations revealed decreased serum albumin and Vitamin D level [Table 1].

Table 1

List of investigations

Molecular genetics did not reveal any mutation suggestive of either Friedreich's ataxia. Deoxyribonucleic acid analysis for spinocerebellar ataxia (type - 1–3) were negative.

At this juncture, an endoscopic biopsy was taken from the duodenum. The histopathological examination of the duodenal biopsy showed marked villus changes in the form of shortening and flattening of villi. There were marked lymphomononuclear cell infiltration in the lamina propria extending into the intestinal epithelium [Figures 1 and 2]. The histopathology was reported as malabsortion syndrome possibly tropical sprue.

Figure 1

Duodenal biopsy showing shortening and flattening of villi (H and E, ×10)

Figure 2

Lymphomononuclear cell infiltration in the lamina propria and in the intestinal epithelium (H and E, ×20)

Later on, immunoglobulin A anti-tissue transglutaminase antibody test was reported as negative.

She received megadose oral Vitamin E (400 IU BD), parenteral Vitamin D (600,000 IU intramuscular single dose), parenteral Vitamin K (10 mg for 3 days), and parenteral Vitamin B12 as well as supplements of calcium, iron, and multivitamin capsules (having Vitamin A, zinc, and water soluble B Vitamins). She has advised a gluten free diet and received a course of tetracycline for tropical sprue, under the advice of a medical gastroenterologist.

With this intensive nutrient replacement followed by maintenance nutrient supplementation, she made a remarkable recovery. The patient is currently under follow-up for the past 6 years. She is asymptomatic at present and having a normal gait. Her routine hematological and biochemical investigations are within normal limits.

Discussion

MAS is a common condition in India. The etiology of MAS often differs in tropical areas from that in temperate countries. In the past, epidemics of tropical malabsorption (TM) have been described in the Southern Indian villages.[12] Now such occurrence is relatively uncommon. This improvement can be attributed to better socioeconomic status, sanitary conditions, and increased use of antibiotics.[1] The data on the spectrum of MAS in Indian adults are sparse.[345] In a recent study, it was observed that TM is the most common cause of MAS followed by celiac disease, in India.[1] It was further observed that celiac disease is more common among younger patients with malabsorption.[1]

Malabsorption results from various abnormalities of the small bowel function and may complicate diverse illnesses including celiac disease, Crohn's disease, Whipple's disease, tropical sprue, intestinal diverticulosis, lymphangiectasia, and postgastrectomy states.[6] The presenting symptoms of malabsortion are varied. The association of neurological disorders with enteric diseases is well established.[6] Malabsorption of fat-soluble vitamins such as Vitamins A, D, E, and K may lead to various complications that may be prevented if the problem is recognized and managed appropriately.[5] Vitamin E is one of the most important lipid-soluble antioxidant nutrients.[2] Vitamin E deficiency can occur with abetalipoproteinemia, cholestatic liver disease, or fat malabsorption.[3] Severe Vitamin E deficiency can have a profound effect on the central nervous system.[2] The classic abnormalities in Vitamin E deficiency progress from hyporeflexia, ataxia, limitations in upward gaze and strabismus to long-tract defects, profound muscle weakness, and visual field constriction.[2] The neurological features are difficult to distinguish from Friedreich's ataxia.[78910]

This patient's presenting symptoms were predominantly neurological in nature, which may be due to Vitamin E deficiency. In addition, she had a history of spontaneous hematoma along with prolonged PT, which responded to Vitamin K replacement. She also had features of tetany with documented hypocalcemia, which improved after Vitamin D therapy.

We present this rather unusual case highlighting the striking neurological manifestations, which improved after supplementation of vitamins.

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Conflicts of interest

There are no conflicts of interest.