Child with abdominal distention

one and half year old female child was referred to us by her family doctor as he thought something wrong with her abdomen.

She was second kid born out of non consanguineous marriage ,elder one is five year old healthy boy .

No significant antenatal ,perinatal problems . 

Her development was normal in all fields till ten months when she started to stand holding furniture ,from there achievement was slowed down .

Now She can  walk holding on fingers which corresponding to one year. 

Her manipulation ,social development corresponds to one year and three months. 

In short there is mild delay in all fields , gross motor  a bit more involved. 

Parents took her to the family doctor when she developed running nose and fever and fever  subsided in three days with symptomatic measures. Parents did not notice anything wrong with her abdomen . They were a bit concerned with the developmental delay because the elder boy achieved all the milestones earlier than her 

No seizures ,no excessive irritability .

No history of any significant illness so far . 

No contact with tuberculosis. 

No history of travel outside .

O/E 

vitals stable .

No pallor 

No significant lymph nodes. No rashes, No bleeds .

GIT 

Oral cavity normal

Abdomen exam showed Liver 5 cm , span 10 cm firm ,sharp margins surface smooth surface

Spleen 12 cms ,crossing the mid line. Firm .Possibility of other masses ruled out as insinuation of fingers between costal margin not possible and bi manual palpation negative .

Genitals normal

Nervous system examination  

Cranial nerves all normal . Special stress on eyes. No squint ,no abnormal eye movements, Ocular movement in all directions full 

( fundus normal ,no cherry red spots or optic atrophy ) , 

Discussion

In short girl child one and half years with delay in milestones , with gross spleno hepatomegaly . 

Overall pattern of development she was normal up to nine months but there is slowing .Deciding about the development is one major decision

1.Is this delay significant or just a normal variation ?

2. Is it static type or Progressive type ? 

A bit difficult ,because we do see mild slowing of the previous pace of development following any acute illness. So may be this is just a normal situation 

But  few points need to be answered before we are happy with the above argument 

1. Was there a significant illness to account for this delay?

2. Of course  significant illness can cause some slowing or may be a dipping of the curve , and after a gap of few week catch up . But in this case it is more than three months since they noticed the dip 

3. We do get a dip or slowing following acute illness severe enough. But will it affect all the fields . Usually gross motor is the maximum affected. Here all the fields are affected . 

So in short pattern of development is more like a progressive disorder . But we dont have strong evidence for it as there is nothing suggestive of a definite grey or white matter involvement so far .

Once more a rethinking 

As the  development is affected and a gross spleen is there  bit of bias in our approach  that it is a neurological problem  . Did we jump to that conclusion without a second thought ?

Of course hard finding is significant spleno hepatomeglay in a young kid ? Other points are not strong enough. May be the basic entity responsible for the gross organomegaly cause bit of delay as part of its course eg a chronic infection .

So we ll take a deviant approach ignoring  the development part which is not a hard finding 

We ll take the dependable finding of gross spleno hepatomegaly here 

What are the main entities which cause this much of organomegaly at this age ?

1. Hemolytic anemia esp thalassemia 

2. Malaria 

3.Malignancy ,adult type of Chronic myeloid leukemia ,rarely NHL

4.Kala Azar 

5.Other hematological disorders like osteopetrosis, Myelofibrosis 

 She is not pale, so far no requirement of blood transfusion. 

There is no fever apart from short febrile illness lasting for two days which subsided

No weight loss 

These arguments argues against most of the above differentials. So this must be an entity causing significant enlargement of spleen and liver ,uniformly a bit firm in consistency ,without involving blood formation or causing blood element consumption . This is one entity not causing much of fever or inflammatory element .

Considering the above points revise the list again , excluding the above 

Storage disorder

Portal hypertension 

Portal hypertension without any features of liver function involvement and this huge spleen a bit unusual , not impossible .

 if we give significance to development problem storage disorder  is more likely.

Which one ? carbohydrate ?Lipid.? Others like Mucopolysacharide, mucolipidosis and many more . 

Here no features in the general examination supporting the last groups , 

Never patient had symptoms of hypoglycemia. But glycogen storage disorder may not have symptoms ,may present with hepatomegaly only . 

But spleen if at all is possible in Type 4 and it is due to portal hypertension ( reminding you , glycogen is not stored in spleen .Glycogen is stored in liver, muscles including heart , and kidneys Not in spleen . Spleen is involved in Type 4 not with storage but by portal hypertension ) This huge spleen is unlikely in portal hypertension .

Apart from this few of the general examination features which may be helpful when we consider storge of glycogen are the doll facies, and floppiness, large toungue etc. In this case none of them . 

So most likely not glycogen storage. 

Which one of lipid storage ? All of them can have liver and spleen enlargement . Main group are gangliosidosis 1 and 2, Spingolipidosis and cerebrosidosis 

Gangliosidosis Type I look like MPS and they ll have abnormal appearance and obvious features. Type II. Tay sachs wont cause organomegally , Sandoffs organomegaly possible but small . and onset late 

Neiman pick many verities are there  , most of them cause predominant liver involvement . Most of them significant functional disturbance esp type C . neurological involvement esp occular , gaze etc. more prominent. Of course fundus examination ll help as all  of them may have cherry red spots  . But it is not a must in early stages. 

Here none of the above descriptions fit with the clinical feature.

So what is remaining is Gauchers , adult type. 

Out of the two types. infantile type ( adult does nt mean it ll occur in older and vice versa ) will have severe neurological problems. Here except for a minimal delay neurological examination is normal 

So we considered the possibility of Gauchers 

So after the basic blood counts we decided to go ahead with a bone marrow examination 

We personally went to pathology department to discuss the problem and we wanted them to look for 

1.Leishmaniasis

2. Malarial parasite

3.Malignancy both CML , or NHL

4.Gauchers 

This is the Bone marrow picture 

( We thank Doctors in our Pathology department ,especially Dr.Feroz , HOD Pathology for giving us the slide )
Patient sent home this week 
We are planning an enzyme assay . The firm which markets the enzyme ll do the enzyme estimation free of charge. We have contacted them , and the tools for collection of sample awaited. 
One happy news .. 
Till recently cost of the enzyme replacement was around fourty lakh a year and no chance for a poor family to afford this for a lifetime . Last year one family filed a case and the verdict is favoring them , to support the cost by the govt. 
I reserve my comments about the court decision and the ethical issue involved . 
But we ll reveal the information to this family too .

girl with neck pain

Six year old girl child presented with difficulty in turning neck for last two months.Movement of neck in all directions were painful , and was progressively increasing. 

Occasional low grade fever,which was controlled with paracetamol.
No neck  swelling or swelling elsewhere noticed by parents.
No history of trauma 
No history of bone or joint pain elsewhere .
No skin rashes or bleeds.
No past history of significant illness . 
No contact with tuberculosis. 

Immunized update

She was pale  No lymph node enlargement . 

No bleeding manifestations
 Movement of neck restricted in all directions and torticollis present 

She does nt have any swelling or pain on any othe bony points

Abdomen exam
No hepato splenomegaly 

We did a neurological examination ............Normal . 

IMAGINGS 

Xray Neck lateral view 

First look it may be passed of as normal . But few abnormalities 

Common mistakes in interpretation of Xray neck ( both lateral and PA ) 
1. Missing abnormalities in the lowest cervial vertebra. If not taken properly the shoulder shadow may mask the vertebra
2. Missing features of Axis and atlas and the relation 
Before looking at the bodies try to draw a line along anterior posterior margin of bodies. canal and the spine. Usually it ll be possible 
Here there is straightening . Inter vertebral space normal , Bodies look normal except the fourth . Axis looks denser . Ring of atlas and atlanto axial relation normal 

Seeing this X Ray , she was re examined for bone and joint problems .It showed found out small swelling on forehead and painful areas on her scalp. There was pediculosis but no infected lesions to account for the pain 

Plane Xray skull lateral view 

Erosion of skull bones multiple sites ,without discrete margins sort of moth eaten appearance..Areas of sclerosis .

MRI brain and Spine 

Look at the Skull bones ..

Brain parenchyma , Pituitary Hypothalamic area was normal 

Cervical spine . the atlas and axis are involved. Lower level multiple vertebral bodies , thoracic and lumbar involved. 

No evidence of compression on spinal cord or medulla .
Reexamination CNS was done ,All deep tendon reflexes normal ,sensations normal

Two common entities at this age

1. Neuroblatoma 

2,Langerhan cell disorder . Eosinophilic granuloma
3 Chronic recurrent multifocal osteomyelitis 



Other Investigations 

Blood , Hb 6 grams, Total count 8000, N 60 ,L38,E2

Mantauxe negative 

Peripheral smear  showed  microcytic hypochromic RBCS 

WBC series and platelet count and distribution were normal 

 VMA 24 hour urine.....was  normal

USG abdomen . Liver , spleen normal ,No Mass Adrenals normal .

Xray chest .No  rib erosion, No mass in the chest. lung and heart shadow and mediastinum were normal 

Needle aspiration cytology Not done 

Bone marrow done  ...., No evidence of leukemia , lymphoma or neuroblastoma. 

Chronic Recurrent Multifocal Osteomyelitis is a rare entity 

( CRMO usually involves long bones than skull and spine even though it is possible . Here most of the long bones spared .Examination of clavicle did nt show any swelling or tenderness . Xray showed clavicles were normal .Clavicle is one of the commonest bone involved in CRMO)

We considered  Langerhans cell disorders as first possibility 

 .

She was referred to Regional Cancer center and she is on treatment from there

Case of Cerebral palsy

11 year old girl with developmental delay.

Born out of non consanguineous marriage without any significant family history of  seizures, mental retardation ,early childhood deaths .

No antenatal insults ,delivered at term ,cried immediately after delivery ,No neonatal problems. Initial developments were normal .Mother noticed the milestones were lagging after  sitting onward. Now her Gross motor development corresponds to 7 years .Fine motor corresponds to seven years. Her language, social normal . She can read and write both English and Malayalam She can subtract ,multiply and divide numbers .

Step wise analysis 

There is developmental delay

Delay predominantly in Gross motor and fine motor  areas. Social and language normal

Delay is of Static type.That is gradually achieving milestones ,no regression  .

Hence at this stage an entity causing developmental delay in gross motor and fine motor only with a pattern of static nature considered 

When she was one and half years parents noticed abnormal jerky movements mainly involving her upper limbs and neck during episodes of fever. Initially it was attributed to drugs given for the fever.This disappeared completely after the fever in the initial episodes. There was no alteration of sensorium during these episodes. They disappeared during sleep.

Initial years she did nt have many episodes of fever. At the age of four she was investigated in NIMHANS with imaging ,biochemical tests and diagnosed as cerebral palsy ,mixed 

She is now eleven years going to school, In the school her performance in mathematics is very good , Reading and understanding Malayalam ,English and hind . But her writing is bad . She writes her own ideas but occasional alphabets slips of from her pen tips. 

She is brought now as the mother is concerned with her day to day activities .in between the episodes of fever also  She drops things from her hands frequently . She cant drink from glass ,she spills . She cant walk holding anything straight , While trying  to walk with a cup of tea her facial expression changes grossly in the effort to keep cup with water in her hands .

Examination 

Vitals stable ,She is thin with normal height . Head circumference normal . Hair and skin normal , No dysmorphic features. No neurocutaneous markers .

No KF ring in the eyes .

On the left eye conjunctiva shows a prominent vascular engorgement on the sclera. No significant features on the other areas .No abnormal movements during rest .She  keep her neck tilted to right side most of the times.but all neck movements normal 

Nervous system examination 

Intelligence memory and speech normal 

Cranial nerves normal . Normal vision , fundus 

Motor system ,Bulk ,power normal , Spasticity bilaterally in all limbs more in the lower limbs ,no asymmetry .Deep tendon reflexes all exaggerated ,no patellar or ankle clonus. No rigidity 

( When we suspect possibility of pyramidal and extrapyramidal lesions there can be a combination of spasticity and rigidity .Spasticity after the give way feeling movement is free. If there is associated rigidity this wont be the case. 
Now her abnormal movements are not obvious , spills on drinking from cup 
Sensations all modalities normal
No cerebellar signs 
Peripheral nerves not thickened
Skull and spine normal 
Other systems normal .
At present 

doubtful telangiectasia on the conjuctiva. 

In short a case of developmental delay ,static type with pyramidal signs and chorea .Most common situation is mixed CP 
Two points which raises doubt here 
1. No insult to developing brain during antenatal , natal postnatal and early period of brain development 
2. Episodic chorea worsened by stress .
Now she is having chorea mild nature in between . Some dystonic posturing also .
In view of episodic worsening of chorea during infections we thought of investigating to rule out underlying neuro metabolic problems. Most common entity which mimics this situation is glutaric acidemia variant 
One clinical point against the possibility of neurometabolic problem is the onset at one and half years and not much of progress at this age of 11 years 
But biochemical investigation, MRI did nt support this . 
So one lesson learned...Occasionally chorea in cerebral palsy may exacerbate during stress.  

3/11/2016 Repeat MRI done yesterday