18-year-old female, presented with complaints of Reddish discoloration of both eyes since 12 years, Involuntary
movements of hands since 11 years, Unsteady gait since 8 years, Slurring of speech since 8 years, Hair loss since 3 years,
Now brought with History of Increased frequency of micturition since 1 month
She had h/o recurrent respiratory and skin infections in first 4 years of life. She discontinued school because of physical disability.
She attained menarche at the age of 14 years
Antenatal and perinatal history was normal with normal developmental milestones till 7 years of age.
There was no similar complaints in the family.
Patient looks grossly wasted and stunted.
BP: 110/80 Hg
RR: 14 breaths /min
Head to Toe:
Head – Thin and sparse hairs with patchy areas of baldness.
Eyes– Telangiectasia were seen over bilateral bulbar conjunctiva (B/L congestion over bulbar conjuctiva)
Hyperpigmentation of skin around eyes
Acanthosis nigricans over nape of neck
Café au lait spots
Deformity on standing (Knock- Knees)
Plantar flexion of B/L feet
On CNS examination,
The patient was conscious oriented with hypotonia, diminished deep tendon reflexes and bilateral plantar flexor.
Cranial nerve examination was normal except for nystagmus.
Cerebellar signs like Wide-based ataxic gait, bilateral nystagmus, scanning speech, intention tremor, dysmetria, dysdiadochokinesia were seen.
Unsteady gait and genu valgum
There were no signs of meningeal irritation
Spine was Normal with no kyphoscoliosis
(CVS,RS, P/A) were unremarkable.
RBS was 382 mg /dl
C peptide level was Low with 3.96ng/ml
Brain– Mild cerebellar atrophy
Alpha Fetoprotein was grossly elevated with 166ng/ml
IgA level was normal with 134 .g/dl
IgE level was low with 7.45 IU/ml
Brain Stem Evoked Response Audiometry (BERA)showed
Sensorineural hearing loss on right side
Rest of the tests came out to be normal.
Molecular testing and cytogenetic assays could not be done.
1. ATAXIA TELANGIECTASIA
2. New onset of T2 DM
- Patient was started on human insulin injection.
- Initially started with Injection regular insulin 8 units, subcutaneously , 6th hourly and after 48 hours changed over to Injection human Mixtard 16 units in morning and 8 units at night.
Here we have presented a case of 18 year old female born to a consanguineous marriage with chronic progressive
ataxia with bilateral telangiectasia, grossly elevated alpha fetoprotein, decreased IgA and IgE levels and MRI findings suggestive of diagnosis of Ataxia Telangiectasia presenting with new onset type 2 diabetes mellitus, one of the known association of A-T [1-3].
Ataxia Telangiectasia also known as “Louis bar syndrome” is a complex disorder, characterized by progressive cerebellar ataxia, neurologic impairment, immunological abnormalities which includes immunoglobulin and antibody deficiencies and lymphopenia, ocular and cutaneous telangiectasia, risk of lymphoreticular malignancy, and increased hypersensitivity to ionizing radiation [1-3].
It is an Autosomal Recessive disorder With Incidence of 1 in 100,000 live Births  Males and females are equally affected . It is caused due to mutation on ATM Gene on 11q22-23 involved in cell division and DNA repair [1,3].
Both humoral and cellular immunity are impaired (combined Immunodeficiency) [2,3] Other manifestations include -Recurrent sinopulmonary infections, choreo-athetoid movements Premature aging, alopecia areata. Insulin resistant Diabetes, predisposition to development of malignancy, Hyper- sensitivity to radiation, slowed growth.
There is delayed pubertal development, gonadal atrophy/dysgenesis [1-3]. Average life expectancy was reported to be approximately 25 years. Two most common cause of death are chronic lung disease and cancer . There is no definitive treatment for A-T.
New advances in management includes gene therapy and IVIG administration 
- Saleh AA. Ataxia Telangiectasia:a
case report. Int J Health Sci Res. 2018;8(3):279-281
- M Shabeer
A Nana, N Ali,B pattnaik.JMSCR,2017. June.5(6);
- Rothblum Oviatt
C., Wright, J.,Lefton-Grief, M.A.et al.Ataxia telangiectasia: a review.
Orphanet J Rare Dis 11, 159(2016).