One week prior to entry she developed pain and swelling in both knee and ankle joints, associated with morning stiffness, and significant restriction of movement. She was treated with non steroidal anti- inflammatory drugs with partial relief .

She had evidence of bilateral small pre-auricular and post-auricular lymph node enlargement. She ‘also had bilateral supraclavicular and axillary lymphadenopathy which was non-tender, discrete and firm in consistency. There was mild hepatomegaly.

Both the knees and ankles were tender and showed limitation of movement.Examination of the knees revealed a mild effusion. Rest of the musculoskeletal and general examination was normal .

Investigations-

The Chest X-rays were suggestive of right paratracheal adenopathy. Ultrasound of the abdomen revealed presence of lymph nodes in the superior mesenteric and celiac artery regions. X-ray of the knee joints was normal

Lymph node biopsy of the right supraclavicular node showed caseating granulomas suggestive of tuberculosis.

INTRODUCTION-

Poncet’s disease or tuberculous rheumatism is a polyarthritis associated with visceral tuberculosis.

It appears to be a hypersensitivity reaction to tuberculoprotein.

There is no evidence of bacterial infection of the joints or their surrounding structures.

(sues AJ, Sturroek RD. Poncet’s disease – fact or fiction? A re-appraisal of

tuberculous rheumatism. Tubercle 1974; 55: 135-142)

Pathogenesis-

According to the parents, the child developed vomiting , without associated Nausea, which was aggravated in the morning after arising from bed. Vomiting was projectile in nature and 2-3 episodes per day, progressively increasing to 4-5 episodes per day. Content of the vomitus was food and water, not bile or blood stained. No history of  abdominal pain, fever, loose stool or intake of any medications, or toxins.

He complains of headache, tight in nature, more prominent in early morning and later localized to nape of the neck and was aggravated on movement of the head ( turning the head ). Then he started having unsteadiness while walking , progressively leading to inability to walk without support. Child had difficulty in changing clothes and used to fall frequently.

Child used to tilt his head and started complaining of loss of vision which progressed to complete blindness since last 10-12 days. Since then child has been bed ridden.

Although the child has bladder and bowel sensation and parents have been helping him, he often passes urine and stool in bed.

There is no history of frequency of micturation neither there is any complain of burning sensation or urgency. No history of abdominal pain or loose stool.

There is complain of change in behavior however.
There is no history of Loss of consciousness , seizure or any localized abnormal body movements. No history of any trauma. Patient has no difficulty in raising his hands above head, or combing his hair.
No history of Cough and cold,or Shortness of breath .
Appetite has been decreasing .

For this problem he had gone to Zonal Hospital where investigations were done – CT scan and Lumbar puncture done. After the reports were suggestive of Brain tumor- Medulloblastoma they referred him to Higher centre for further management 2 months back.
But due to economical problem they presented late , ie after 2 months after the symptoms were severe  and disabiling.

On Examination-
General condition- The child was restless and had a vacant stare. He had twitching movement of upper lips.

Vitals- Blood Pressure – 130/90 mmHg PR-68/min RR-24/min, irregular Temperature- 98 F
P I L Cy C L O D – nil

CNS examination-
GCS- 15/15
Higher mental functions- Intact
Cranial Nerve examination-
CN I- Intact
CN II Optic nerve- No perception of light, papillary reflex present bilaterally both direct and consensual.
CN III,IV and VI- Extraocular movement could not be examined due to complete loss of vision.
CN VIII- Hearing was normal.
Rest of CN were intact.
Motor system examination- Bulk, tone, power – Normal bilaterally, Gait- could not be tested, co-ordination-Normal, Reflexes were Normal.
Sensory system- Normal.
Cerebellar signs- Dysadidokinesia +, Rebound Phenomenon + , others could not be assessed.
Signs of Meningeal Irritation- Neck rigidity +, Kernig sign +, Leg Brudginski –

Chest , CVS and Per Abdomen examination were all Normal.

CT Scan-
CT scan showed- dense white large infratentorial mass in the posterior fossa, in the midline occupying nearly 70% of the posterior fossa , without any calcification or hemorrhage.

Fundus Examination revealed- B/L Papilledema.

Patient was Diagnosed as – Medulloblastoma with Hydrocephalus

Plan- Palliative Ventriculo-pontoneal Shunt.

Dr Sujit Kumar Shrestha

History
History given by Parents and child himself. ( Reliable)

Chief Complains-
Fever X 11 days
Swelling in Neck X 11 days

History of Present Illness
The child was apparently well 11days back, when he developed fever, continuous, highgrade, upto104F, maximum during nights,coming down on medication(Ibuprofen+Paracetamol) and was a/w profuse sweating how ever there was no h/o chills or rigors.

Headache+on/offassociatedwithfever,frontal.
Fever was followed by swelling in the neck region below jaw on both side, more prominent over rightside, which was progressively increasing. There was no h/o any redness over swelling, pain or discharge from the swelling.
No h/o sore throat, oral ulcers or difficulty in swallowing.
No h/o ear discharge or ear ache, running nose or nasal blockade.
No h/o cough, chest pain or shortness of breath.
No h/o progressive pallor, or prominent wt loss or bony tenderness, or bleeding from any sites.
No h/o joint pain, joint swelling or blurring of vision
No h/o rashes over the body, or photosensitivity
No h/o vomiting, altered or loss of consciousness or abnormal body movements.
No h/o abdominal pain or swelling.
No h/o travel to malaria and kalaazar endemic region , or forest regions.
No h/o exposure to TB or prolonged intake of any drugs.
The child has cattle in his house –cows. And gives h/o drinking unboiled cow milk. No exposure to cats or dogs
Bowel/Bladder habit was Normal.( No h/o loose stool, blood or mucus in stool, no h/o burning micturation or frequency)
Appetite decreases since illness.
Sleep -normal.

For this Problem he was taken to Local health post where he was given Paracetamol. After the fever was not relieved he was brough to ER  after 5 days of fever.
CBC    TC= 4500 N=66, L=30, M=04, Hematocrit=32, Plateletes= 142,000
Urine RME= WNL     CXR-Normal       Blood C/S, Urine C/S sent
Discharged on syp Ofloxacin 15 mg/kg/day (took for 3 days)
Then he was taken to clinic after s/s did not improve ,where Cefixime 14mg/kg/day was given for 3 days.

Past History-No significant illness in the past.
Birth, Neonatal and developmental h/o were non-contributory
Family Hx-His grandmother was treated for PTB 35 yrs back. Dose completed. His brother has similar illness 3 years back with neck swelling and fever , he was treated at PH as well and recovered fully. ( Documents could not be retrieved)
Immunization Hx-Complete as per EPI schedule, BCG scar +
Socio-economic Hx-Child lives in nuclear family in village, in cement house, Cattle-shed attached to house.
Allergic Hx-no known allergy to any substance

Examination
General condition-ill-looking, lethargic
Vitals:
Temperature= 102 F
PR= 110/min, regular, good volume, bounding, all peripheral pulses palpable, no radio-radial or radiofemoral delay.
RR= 25/min, regular BP= 100/60 mmHg Lt hand supine.

Cardinal Signs-
B/L Submandibular LNswere palpable,multiple, Discrete, mobile, non-tender, firm, no discharging sinuses and redness, size-Right side measuring upto 2 cm, and 1.5 cm on left side.
Axillary LNwere palpalble B/L, multiple, 1 LN =1.5 cm size with similar characteristic.
Inguinal LNS were palpable B/L but were insignificant size.
Pallor , Icterus, Edema, Clubbing, Cyanosis were absent, JVP-not raised.

Anthropomentry-
Wt-17kg (25-50thcentile) , Ht-108cm (5-10thcentile)

Systemic Examination-
Skin texture and hair are normal.
ENT examination-Normal
Thyroid examination –Normal
Bone and joints -Normal

Chest -B/L Moving equally with respiration ,B/L equal expansion, Normal resonance on percussion. B/L VBS, no added sounds. VF= B/L equal.
CVS-S1,S2 Normal, No Murmur.

Per Abdomen Examination-
Soft, non-tender, Liver –palpable 6 cmbelow Rt.SCM in MCL, span = 12 cm, firm, Non-tender, sharp margin, smooth surface, Rt. Lobe was enlarged as well.
Spleen palpable 3cmbelow Lt CM, soft, smooth, non-tender and notch felt.
Fluid thrill –, Resonant note on percussion and Shifting dullness –
Bowel sound heard.

CNS-
HMF-Normal, CN-were intact
Motor and Sensory system were normal.
Meningeal sign –, Cerebellar signs -

Assessment- Fever with Generalized Lymphadenopathy with Hepatosplenomegaly
Provisional diagnosis – Enteric Fever

Points in favour -

Inpatient Course-

Day 1
Rx-Injection Ceftriaxone 100mg/kg/day Started.
Repeat CBC TC=8800 , N=48, L=48, ESR= 78 mm/hr
Peripheral Blood Smear-Hypochromic normocytic RBCs, Malarial parasites not seen, no atypical cells.
Chest X-Ray PA view-Normal findings
Repeat Blood C/S sent.

Day 2-
Blood C/S & Urine C/S traced -no growth , Mantoux Performed.
LP done(Irrelevant talk) –Normal

Day 2-Day5-
Response was guarded, fever persisted, vomiting 1-2 episodes, after feeding, appetite significantly decreased.
CSF= no growth, Mantoux = 0 mm

Day 5
c/o-Fever not relieved, spikes 103.5 F, 102 F,102 F
Headache +, Swelling over neck not subsided.
Child was irritable and lethargic.
Examination within Normal limit, Meningeal signs were absent.
Bone Marrow Aspiration and Biopsy performed and Sent.
ANA, Brucella IgM, VCA IgM were sent
Inj Cloxacillin 100mg/kg/day added

Day 7
Inj Ceftriaxone was stopped as fever did not respond to it.
Inj Chloramphenicol was added
Inj Cloxacillin was continued.

Day 8
Bone Marrow Cytology and Biopsy –No abnormality, no LD bodies. Bone marrow C/S-No growth
ANA= Negative, Brucella IgM= Negative VCA IgM = negative

Day 9
Fever spikes Persisting, LN-not regressed.
Ultrasonography –Hepatomegaly 13.3 cm , Splenomegaly=12.2 cm, minimal ascites, rest normal.
LN Biopsy was planned for Next day.
Inj Cloxacillin stopped.

Day 10-
Child afebrile for 18 hours, no new spikes of fever, LNs subsiding.
Child’s General condition improved.
Plan for LN Biopsy was cancelled.

Over Day 11-18 :
No new episode of fever, LN-regressed completely, Liver -2cm, spleen-0
Appetite Improved and child better .

Final Impression-
Undiagnosed Fever (Resloved) most probably Enteric Fever.
Inj Chloramphenicol was given for total 10 days.
Child was Discharged and Followed up.

THE INVESTIGATIONS NOT SENT WERE NOT AVAILABLE IN OUR SCENARIO.

ANY Suggestion on which disease it should have been diagnosed as , please leave comments.

Birth defects are a result of Syndromes, Gene mutations, Infections during pregnancy, toxicities of drugs and metals,and environmental factors. Combinations of these factors often play a role is severe deformities.Here are Six Rarest and most severe congenital anomalies or birth defects seen by mankind.

These pictures were collected from different sources on the internet and some pages in the facebook. Don’t forget to leave the feedback.The Gallery Images ( A- is top left, B is Top right and in the similar order)

A. Profound Fusion of Siamese Twin- A severe deformity of the infant is actually due to a Fused siamese twin. Called Profound fusion of siamese twin. ( Source unclear)

B.”Mermaid syndrome” also known as sirenomelia due to fusion of two limbs. Shiloh Pepin, who was born with fused legs, a rare condition often called “mermaid syndrome, died at the age of10.(The Huffington post)

C. Hydrops Fetalis with Cystic hygroma in neck. A severely deformed child born dead. ( Source- Medical Smarties facebook page “ this photo was taken yesterday @ al Hilal Hospital in Ramallah … for a 21 week fetus who was aborted”)

D.Harlequin baby-”Harlequin fetus” and “Ichthyosis congenita gravior”, a skin disease, is the most severe form of congenital ichthyosis. Synonymous with Harlequin ichthyosis, ichthyosis congenita, Ichthyosis fetalis,keratosis diffusa fetalis, “Harlequin fetus”,and “Ichthyosis congenita gravior”

E. Synophthalmia- A severly malformed child with cyclopia (cyclocephaly or synophthalmia) is a rare form of holoprosencephaly.

F. Baby named Laxmi, India was born with 4 arms and 4 legs but later corrective surgery was done. Now she is normal.