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Case Report

The maladies of malabsorption

Rashmi Patnayak, Vaikkakara Suresh1, Amitabh Jena2, Kadiyala Madhu3,
Bobbit Venkatesh Phaneendra, Venkatrami Reddy4
Departments of Pathology, 1Endocrinology, 2Surgical Oncology and 3Madhu Gastroenterology Centre, 4Surgical Gastroenterology,
Sri Venkateswara Institute of Medical Sciences, Tirupati, Andhra Pradesh, India

Address for correspondence: Dr. Rashmi Patnayak, Department of Pathology, Sri Venkateswara Institute of Medical Sciences,
Tirupati ‑ 517 507, Andhra Pradesh, India. E‑mail: rashmipatnayak2002@yahoo.co.in

ABSTRACT
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.

Key words: Malabsorption syndrome, neurological symptoms, tropical sprue

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. [1‑3] 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
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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,
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DOI: Cite this article as: Patnayak R, Suresh V, Jena A, Madhu K,

10.4103/1817-1745.181266 Phaneendra BV, Reddy V. The maladies of malabsorption. J Pediatr
Neurosci 2016;11:74-6.

74 / © 2016 Journal of Pediatric Neurosciences | Published by Wolters Kluwer - Medknow

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Patnayak, et al.: The maladies of malabsorption

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

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 Figure 1: Duodenal biopsy showing shortening and flattening of villi
albumin and Vitamin D level [Table 1]. (H and E, ×10)

Table 1: List of investigations

Investigations Results (conventional unit)‑at the time of admission Normal range Recent results
Hemoglobin (g/dl) 11.2 12-16 12.5
Total leukocyte count (cells/cmm) 5300 4000-11,000 4700
Platelet count (lakhs/cmm) 1.75 1.5-4.0 2.0
Differential leukocyte count P ‑ 52%, L ‑ 41%, E ‑ 5%, M ‑ 2% P (50-70%), L (20-40%), P ‑ 52%, L ‑ 40%,
E (1-4%), M (2-7%) E ‑ 5%, M ‑ 3%
Mean corpuscular volume (fl) 75 82-92 88
Mean corpuscular hemoglobin 23 27-32 27
concentration (pg)
Peripheral smear Microcytic hypochromic anemia, tear ‑ Normocytic,
drop cells, acanthocytes and target cells normochromic
Erythrocyte sedimentation rate 25 mm after 1 h 1-20 mm after 1 h 20 mm after 1 h
Biochemical examinations
Serum calcium (mg/dl) 9.2 8.00-10.50 9.6
Serum phosphorus (mg/dl) 3.1 2.5-4.80 4.0
Prothrombin time 21.7 s (C: 12.2 s) ‑ 13.6 s (C: 12.5 s)
Total serum proteins (g/dl) 6.5 6.00-8.00 7.9
Serum albumin (g/dl) 2.3 3.00-5.50 4.4
Serum AST (SGOT) (IU/L) 64 10-35 23
Serum ALT (SGPT) (IU/L) 25 10-40 40
Serum alkaline phosphatase 201 90-120 97
HIV Nonreactive ‑ ‑
Hepatitis B surface antigen Negative ‑ ‑
Antihepatitis C virus antibodies Negative ‑ ‑
25 OH Vitamin D (ng/ml) <5 30-100 ‑
SGPT: Serum glutamic pyruvic transaminase, SGOT: Serum glutamic oxaloacetic transaminase, AST: Aspartate transaminase, ALT: Alanine transaminase

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Patnayak, et al.: The maladies of malabsorption
Figure 2: Lymphomononuclear cell infiltration in the lamina propria and in
the intestinal epithelium (H and E, ×20)
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.[1,2] 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.[3‑5] 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
76 / Journal of Pediatric Neurosciences / Volume 11 / Jan-Mar / 2016
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.[7‑10]
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.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
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