Home Pediatrics Ataxia Telangiectasia- A Case Report
Clinical History
Examination
Investigations
Diagnosis
Treatment
Discussion
References

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

Past History-

She had h/o recurrent respiratory and skin infections in first 4 years of life. She discontinued school because of physical disability.

Menstrual History-

She attained menarche at the age of 14 years

Birth History-

Antenatal and perinatal history was normal with normal developmental milestones till 7 years of age.

Family History-

There was no  similar complaints   in the family.

General:

Patient looks grossly wasted and stunted.

Height– 140cm

Weight– 34kg

BMI– 17.3

Vitals:

PR: 72bpm

BP: 110/80 Hg

RR: 14 breaths /min

SpO2: 98%

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)

Synorphrys 

Hyperpigmentation of skin around eyes

Acanthosis nigricans over nape of neck

Café au lait spots

Cubitus valgus

Genu valgum

Deformity on  standing (Knock- Knees)

Plantar flexion of  B/L feet

  Systemic   Examination:  

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.

Telangiectasia
Genu valgum
Synophrys
Acanthosis nigrans
 and sparse hair
Knocked knees

Nystagmus

Unsteady gait and genu valgum

Scanning Speech

There were no signs of meningeal irritation

  Spine was Normal with no kyphoscoliosis

Other systems 

(CVS,RS, P/A) were unremarkable.

HbA1c– 12.6

RBS was 382 mg /dl

C peptide level was Low with 3.96ng/ml

MRI Scan

 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.

MRI showing 
  mild cerebellar
  atrophy
BERA Report with Findings
Audiological Evaluation

 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 [1] Males and females are equally affected [1]. 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 [3].   There is no definitive treatment   for A-T.

  New advances in management includes  gene therapy  and  IVIG  administration [3]

  1. Saleh AA. Ataxia Telangiectasia:a
    case report. Int J Health Sci Res. 2018;8(3):279-281
  2. M Shabeer
    A Nana, N Ali,B pattnaik.JMSCR,2017. June.5(6);
    22915-22917 https://dx.doi.org/10.18535/jmscr/v5i6.19
  3. Rothblum Oviatt
    C., Wright, J.,Lefton-Grief, M.A.et al.Ataxia telangiectasia: a review.
    Orphanet J Rare Dis 11, 159(2016).
    https:/doi.org/10.1186/s13023-016-0543-7

0 comment
0

Leave a Comment