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].
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.
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.